7-6006628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006628
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006628
    reference: chr 7
allele count: 1
allele frequency: 1.326647032290589e-5
allele num: 75378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.120G>A
  hgvsp: ENSP00000384097.1:p.Met40Ile
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.120G>A
  hgvsp: ENSP00000400988.2:p.Met40Ile
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.120G>A
  hgvsp: ENSP00000338556.3:p.Met40Ile
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.120G>A
  hgvsp: ENSP00000385443.1:p.Met40Ile
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met40Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-6006643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006643
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006643
    reference: chr 7
allele count: 27
allele frequency: 3.7879850725329e-4
allele num: 71278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.105C>T
  hgvsp: ENST00000337579.3:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.105C>T
  hgvsp: ENST00000441023.2:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.105C>T
  hgvsp: ENST00000404406.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.105C>T
  hgvsp: ENST00000405415.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 18604
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15463
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr35Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

7-6006646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006646
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006646
    reference: chr 7
allele count: 1
allele frequency: 1.428163381890888e-5
allele num: 70020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.102C>T
  hgvsp: ENST00000337579.3:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.102C>T
  hgvsp: ENST00000404406.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.102C>T
  hgvsp: ENST00000441023.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.102C>T
  hgvsp: ENST00000405415.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn34Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

7-6006652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006652
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006652
    reference: chr 7
allele count: 1
allele frequency: 1.492893825391138e-5
allele num: 66984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.96T>C
  hgvsp: ENST00000337579.3:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.96T>C
  hgvsp: ENST00000404406.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.96T>C
  hgvsp: ENST00000405415.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.96T>C
  hgvsp: ENST00000441023.2:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22898
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp32Asp
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

7-6006657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006657
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006657
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 64170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.91C>T
  hgvsp: ENSP00000384097.1:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.91C>T
  hgvsp: ENSP00000338556.3:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.91C>T
  hgvsp: ENSP00000400988.2:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.91C>T
  hgvsp: ENSP00000385443.1:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16936
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln31Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS

7-6006668-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006668
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006668
    reference: chr 7
allele count: 41
allele frequency: 6.972551954015169e-4
allele num: 58802
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.80A>G
  hgvsp: ENSP00000385443.1:p.Asp27Gly
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.80A>G
  hgvsp: ENSP00000338556.3:p.Asp27Gly
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.80A>G
  hgvsp: ENSP00000384097.1:p.Asp27Gly
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.80A>G
  hgvsp: ENSP00000400988.2:p.Asp27Gly
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17409
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11571
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 14488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp27Gly
num of homozygotes: 5
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-6006676-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006676
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006676
    reference: chr 7
allele count: 4
allele frequency: 7.311812232661866e-5
allele num: 54706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.72T>C
  hgvsp: ENST00000337579.3:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.72T>C
  hgvsp: ENST00000404406.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.72T>C
  hgvsp: ENST00000441023.2:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.72T>C
  hgvsp: ENST00000405415.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8957
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp24Asp
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

7-6006680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006680
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006680
    reference: chr 7
allele count: 2
allele frequency: 3.885003885003885e-5
allele num: 51480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.68C>T
  hgvsp: ENSP00000400988.2:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.68C>T
  hgvsp: ENSP00000338556.3:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.68C>T
  hgvsp: ENSP00000385443.1:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.68C>T
  hgvsp: ENSP00000384097.1:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10406
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser23Phe
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: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

7-6006686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006686
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006686
    reference: chr 7
allele count: 1
allele frequency: 2.078310749023194e-5
allele num: 48116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.62C>T
  hgvsp: ENSP00000400988.2:p.Ser21Phe
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.62C>T
  hgvsp: ENSP00000385443.1:p.Ser21Phe
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.62C>T
  hgvsp: ENSP00000384097.1:p.Ser21Phe
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.62C>T
  hgvsp: ENSP00000338556.3:p.Ser21Phe
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser21Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

7-6006689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006689
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006689
    reference: chr 7
allele count: 3
allele frequency: 6.645990252547629e-5
allele num: 45140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.59C>T
  hgvsp: ENSP00000385443.1:p.Ser20Leu
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.59C>T
  hgvsp: ENSP00000384097.1:p.Ser20Leu
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.59C>T
  hgvsp: ENSP00000338556.3:p.Ser20Leu
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.59C>T
  hgvsp: ENSP00000400988.2:p.Ser20Leu
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7317
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 13544
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genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser20Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

7-6006696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006696
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006696
    reference: chr 7
allele count: 3
allele frequency: 7.588404917286387e-5
allele num: 39534
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.52T>C
  hgvsp: ENSP00000385443.1:p.Ser18Pro
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.52T>C
  hgvsp: ENSP00000338556.3:p.Ser18Pro
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.52T>C
  hgvsp: ENSP00000400988.2:p.Ser18Pro
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.52T>C
  hgvsp: ENSP00000384097.1:p.Ser18Pro
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 71
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
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genotype quality: GenotypeQuality
  all individuals: 1270
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 5581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser18Pro
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

7-6006698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006698
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006698
    reference: chr 7
allele count: 3
allele frequency: 8.081025751535395e-5
allele num: 37124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.50G>A
  hgvsp: ENSP00000338556.3:p.Arg17His
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.50G>A
  hgvsp: ENSP00000400988.2:p.Arg17His
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.50G>A
  hgvsp: ENSP00000385443.1:p.Arg17His
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.50G>A
  hgvsp: ENSP00000384097.1:p.Arg17His
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16246
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  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: 801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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: 23900
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16922
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg17His
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-6006699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006699
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006699
    reference: chr 7
allele count: 2
allele frequency: 5.550929780738274e-5
allele num: 36030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.49C>T
  hgvsp: ENSP00000400988.2:p.Arg17Cys
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.49C>T
  hgvsp: ENSP00000384097.1:p.Arg17Cys
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.49C>T
  hgvsp: ENSP00000338556.3:p.Arg17Cys
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.49C>T
  hgvsp: ENSP00000385443.1:p.Arg17Cys
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16939
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg17Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

7-6006710-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006710
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006709
    reference: chr 7
allele count: 1
allele frequency: 4.017354973485457e-5
allele num: 24892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.37delG
  hgvsp: ENSP00000384097.1:p.Glu13ArgfsTer14
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000444512
  ensembl transcript: ENST00000542644
  gene symbol: RSPH10B
  hgvsc: ENST00000542644.1:c.37delG
  hgvsp: ENSP00000444512.1:p.Glu13ArgfsTer?
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.37delG
  hgvsp: ENSP00000400988.2:p.Glu13ArgfsTer14
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.37delG
  hgvsp: ENSP00000338556.3:p.Glu13ArgfsTer14
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.37delG
  hgvsp: ENSP00000385443.1:p.Glu13ArgfsTer14
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22095
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu13ArgfsTer14
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: TC
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-6006754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006754
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006754
    reference: chr 7
allele count: 1
allele frequency: 1.801801801801802e-4
allele num: 5550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000444512
  ensembl transcript: ENST00000542644
  gene symbol: RSPH10B
  hgvsc: ENST00000542644.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000400988
  ensembl transcript: ENST00000441023
  gene symbol: RSPH10B
  hgvsc: ENST00000441023.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000390326
  ensembl transcript: ENST00000455618
  gene symbol: RSPH10B
  hgvsc: ENST00000455618.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.-7C>T
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29660
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28027
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-6006785-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6006785
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6006785
    reference: chr 7
allele count: 1
allele frequency: 3.186743148502231e-4
allele num: 3138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000384097
  ensembl transcript: ENST00000404406
  gene symbol: RSPH10B
  hgvsc: ENST00000404406.1:c.-38T>A
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000385443
  ensembl transcript: ENST00000405415
  gene symbol: RSPH10B
  hgvsc: ENST00000405415.1:c.-38T>A
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000338556
  ensembl transcript: ENST00000337579
  gene symbol: RSPH10B
  hgvsc: ENST00000337579.3:c.-38T>A
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000444512
  ensembl transcript: ENST00000542644
  gene symbol: RSPH10B
  hgvsc: ENST00000542644.1:c.-38T>A
  variant of: http://identifiers.org/hgnc/27362
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155026
  ensembl protein: ENSP00000390326
  ensembl transcript: ENST00000455618
  gene symbol: RSPH10B
  hgvsc: ENST00000455618.2:c.-38T>A
  variant of: http://identifiers.org/hgnc/27362
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22992
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5801
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

7-6012828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012828
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012828
    reference: chr 7
allele count: 6
allele frequency: 7.839038411288215e-4
allele num: 7654
alternate allele: A
canonical: true
consequence: upstream gene
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 130
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 3.125e-2
  allele num: 64
  num of homozygotes: 1
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 100
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

7-6012839-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012839
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012839
    reference: chr 7
allele count: 1
allele frequency: 1.256281407035176e-4
allele num: 7960
alternate allele: G
canonical: true
consequence: upstream gene
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 104
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 172
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2024
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

7-6012843-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012843
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012842
    reference: chr 7
allele count: 1
allele frequency: 1.265822784810127e-4
allele num: 7900
alternate allele: G
canonical: true
consequence: upstream gene
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 70
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 182
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 138
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: GA
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-6012877-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012877
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012877
    reference: chr 7
allele count: 2
allele frequency: 1.59846547314578e-4
allele num: 12512
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*153A>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28835
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 370
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6944
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 136
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

7-6012884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012884
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012884
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 14144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*146C>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27813
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
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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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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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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  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: 7.75e1
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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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  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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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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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: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 850
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 526
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7242
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

7-6012893-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012893
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012893
    reference: chr 7
allele count: 2
allele frequency: 1.027432446316655e-4
allele num: 19466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*137T>A
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  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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  bin: 7.75e1
  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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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
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.570033410434336e-4
  allele num: 7782
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 488
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 620
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

7-6012912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012912
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012912
    reference: chr 7
allele count: 1
allele frequency: 1.978787399081843e-5
allele num: 50536
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*118C>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  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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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 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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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3794
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 25400
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4110
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-6012913-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012913
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012913
    reference: chr 7
allele count: 1
allele frequency: 1.900201421350663e-5
allele num: 52626
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*117T>A
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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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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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3932
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
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  allele num: 4296
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2952
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

7-6012914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012914
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012914
    reference: chr 7
allele count: 9
allele frequency: 1.640539555231498e-4
allele num: 54860
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*116A>G
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24303
  bin: 7.5e0
  variant carriers: 1
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
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3576
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 27948
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3170
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-6012919-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012919
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012920
    reference: chr 7
allele count: 4
allele frequency: 6.221613886642194e-5
allele num: 64292
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*110dupA
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25638
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4180
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4308
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4816
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-6012919-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012919
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012918
    reference: chr 7
allele count: 5
allele frequency: 7.777017358302744e-5
allele num: 64292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*110delA
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25638
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19248
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4816
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.519338899301415e-5
  allele num: 11738
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4308
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: AT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

7-6012920-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012920
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012920
    reference: chr 7
allele count: 1
allele frequency: 1.522765341860819e-5
allele num: 65670
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*110A>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 706
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genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.437394532568343e-5
  allele num: 11852
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 594
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4466
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

7-6012923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012923
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012923
    reference: chr 7
allele count: 268
allele frequency: 3.647648083623693e-3
allele num: 73472
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*107A>G
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17771
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 28470
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17619
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 227
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 102
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29890
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.75e1
  variant carriers: 214
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 26
population: African
  type: Population
  allele count: 258
  allele frequency: 4.336134453781513e-2
  allele num: 5950
  num of homozygotes: 25
population: Latino
  type: Population
  allele count: 8
  allele frequency: 1.473839351510685e-3
  allele num: 5428
  num of homozygotes: 1
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 632
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-6012925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012925
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012925
    reference: chr 7
allele count: 14
allele frequency: 1.841475284770999e-4
allele num: 76026
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*105A>G
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 16765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5698
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5580
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 7
  allele frequency: 5.533596837944664e-4
  allele num: 12650
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

7-6012934-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012934
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012934
    reference: chr 7
allele count: 5
allele frequency: 5.616210630363481e-5
allele num: 89028
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*96G>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 748
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7440
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 1.036140583554377e-4
  allele num: 48256
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-6012941-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012941
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012941
    reference: chr 7
allele count: 2
allele frequency: 2.165392693965051e-5
allele num: 92362
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*89T>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39762
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genotype quality: GenotypeQuality
  all individuals: 545
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genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
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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: 1036
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 11501
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genotype quality: GenotypeQuality
  all individuals: 2777
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genotype quality: GenotypeQuality
  all individuals: 112
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genotype quality: GenotypeQuality
  all individuals: 75
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 762
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13830
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7532
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-6012952-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012952
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012952
    reference: chr 7
allele count: 2
allele frequency: 2.178791642155261e-5
allele num: 91794
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*78T>G
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 514
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 429
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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: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 165
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genotype quality: GenotypeQuality
  all individuals: 456
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37442
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5530
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 4.004004004004004e-5
  allele num: 49950
  num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6516
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

7-6012958-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012958
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012958
    reference: chr 7
allele count: 1
allele frequency: 1.092967844886003e-5
allele num: 91494
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*72C>A
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  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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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5512
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.009242515571629e-5
  allele num: 49770
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 756
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

7-6012965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012965
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012965
    reference: chr 7
allele count: 3
allele frequency: 3.29931374274151e-5
allele num: 90928
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*65T>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1331
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 5392
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genotype depth: GenotypeDepth
  all individuals: 5589
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2557
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 429
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genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7418
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 754
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7700
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-6012967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012967
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012967
    reference: chr 7
allele count: 2
allele frequency: 2.204634140964307e-5
allele num: 90718
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*63C>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30832
  bin: 2.25e1
  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
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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
  all individuals: 1344
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33414
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2535
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 215
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 494
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 188
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genotype quality: GenotypeQuality
  all individuals: 219
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 205
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  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6456
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.312079555425563e-5
  allele num: 13676
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.350256548744261e-4
  allele num: 7406
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

7-6012968-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012968
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012966
    reference: chr 7
allele count: 2
allele frequency: 2.208139201095237e-5
allele num: 90574
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*60_*61delAG
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1547
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genotype depth: GenotypeDepth
  all individuals: 6321
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1335
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 223
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genotype quality: GenotypeQuality
  all individuals: 96
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genotype quality: GenotypeQuality
  all individuals: 231
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genotype quality: GenotypeQuality
  all individuals: 914
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genotype quality: GenotypeQuality
  all individuals: 101
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genotype quality: GenotypeQuality
  all individuals: 32875
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genotype quality: GenotypeQuality
  all individuals: 206
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genotype quality: GenotypeQuality
  all individuals: 418
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genotype quality: GenotypeQuality
  all individuals: 234
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genotype quality: GenotypeQuality
  all individuals: 102
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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: 59
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genotype quality: GenotypeQuality
  all individuals: 219
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genotype quality: GenotypeQuality
  all individuals: 490
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genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13662
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5478
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.033098849266051e-5
  allele num: 49186
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
reference allele: ACT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-6012971-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012971
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012972
    reference: chr 7
allele count: 2
allele frequency: 2.228759917981635e-5
allele num: 89736
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*58dupA
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28959
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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: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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genotype depth: GenotypeDepth
  all individuals: 1371
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
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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: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.749518834204015e-4
  allele num: 7274
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7588
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5436
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-6012971-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012971
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012969
    reference: chr 7
allele count: 4
allele frequency: 4.45751983596327e-5
allele num: 89736
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*57_*58delCA
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28959
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 750
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 48674
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7588
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: CTG
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-6012973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012973
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012973
    reference: chr 7
allele count: 1
allele frequency: 1.121805658387741e-5
allele num: 89142
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*57C>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13554
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.070393374741201e-5
  allele num: 48300
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6400
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

7-6012973-GTCTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012973
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012969
    reference: chr 7
allele count: 1
allele frequency: 1.121805658387741e-5
allele num: 89142
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*53_*56delAAGA
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17264
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13554
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6400
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 48300
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: GTCTT
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

7-6012975-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012975
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012975
    reference: chr 7
allele count: 1
allele frequency: 1.133966842809516e-5
allele num: 88186
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*55G>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26904
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6372
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5374
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 748
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-6012990-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012990
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012990
    reference: chr 7
allele count: 2
allele frequency: 2.447321406720344e-5
allele num: 81722
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*40T>A
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 716
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6866
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 3.32667997338656e-4
  allele num: 6012
  num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

7-6012993-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012993
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012993
    reference: chr 7
allele count: 67
allele frequency: 8.264666699560863e-4
allele num: 81068
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*37G>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16601
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21883
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17380
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 9
population: Latino
  type: Population
  allele count: 5
  allele frequency: 7.32493407559332e-4
  allele num: 6826
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 43592
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12534
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-6012996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012996
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012996
    reference: chr 7
allele count: 9
allele frequency: 1.151248465002047e-4
allele num: 78176
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*34G>A
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14427
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13810
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
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genotype quality: GenotypeQuality
  all individuals: 101
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genotype quality: GenotypeQuality
  all individuals: 94
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genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 1
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 676
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5810
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 42002
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

7-6012997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6012997
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6012997
    reference: chr 7
allele count: 1
allele frequency: 1.303780964797914e-5
allele num: 76700
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*33C>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 1.75e1
  variant carriers: 1
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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20562
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1876
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
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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: 336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6086
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.430724355858046e-5
  allele num: 41140
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4648
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

7-6013008-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013008
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013008
    reference: chr 7
allele count: 1
allele frequency: 1.69296404144376e-5
allele num: 59068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*22A>G
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17785
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  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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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16408
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8892
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 530
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.008471157724889e-4
  allele num: 9916
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3538
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

7-6013013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013013
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013013
    reference: chr 7
allele count: 2
allele frequency: 3.41705108491372e-5
allele num: 58530
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*17G>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18794
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 8896
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 532
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4782
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-6013015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013015
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013015
    reference: chr 7
allele count: 1
allele frequency: 1.700969552645008e-5
allele num: 58790
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*15T>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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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  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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2262
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genotype quality: GenotypeQuality
  all individuals: 740
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 200
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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: 88
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 2.085070892410342e-4
  allele num: 4796
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9880
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3512
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-6013027-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013027
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013027
    reference: chr 7
allele count: 3
allele frequency: 5.133118883033331e-5
allele num: 58444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*3G>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20130
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
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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: 4.75e1
  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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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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
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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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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4696
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4566
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9830
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

7-6013027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013027
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013027
    reference: chr 7
allele count: 2
allele frequency: 3.422079255355554e-5
allele num: 58444
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*3G>A
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
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
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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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  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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: 186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4778
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4566
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.27653997378768e-5
  allele num: 30520
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-6013028-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013028
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013028
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 58508
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.*2C>G
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20197
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9844
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4564
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4782
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-6013047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013047
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013047
    reference: chr 7
allele count: 1
allele frequency: 1.666055779547499e-5
allele num: 60022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1369G>A
  hgvsp: ENSP00000371758.4:p.Val457Ile
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2572G>A
  hgvsp: ENSP00000265849.7:p.Val858Ile
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2254G>A
  hgvsp: ENSP00000392843.2:p.Val752Ile
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val858Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-6013049-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013049
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013049
    reference: chr 7
allele count: 25009
allele frequency: 3.702075376735648e-1
allele num: 67554
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1367G>C
  hgvsp: ENSP00000371758.4:p.Gly456Ala
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2570G>C
  hgvsp: ENSP00000265849.7:p.Gly857Ala
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2252G>C
  hgvsp: ENSP00000392843.2:p.Gly751Ala
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 3020
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 1.25e1
  variant carriers: 4679
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.5e0
  variant carriers: 573
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 1242
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 1956
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 409
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 1.75e1
  variant carriers: 4974
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 2.25e1
  variant carriers: 4116
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 581
genotype depth: GenotypeDepth
  all individuals: 17038
  bin: 7.5e0
  variant carriers: 3077
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 796
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 594
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 306
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.75e1
  variant carriers: 424
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 1.75e1
  variant carriers: 770
genotype quality: GenotypeQuality
  all individuals: 15647
  bin: 2.25e1
  variant carriers: 872
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.75e1
  variant carriers: 522
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 287
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.25e1
  variant carriers: 311
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.25e1
  variant carriers: 425
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 344
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 248
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 6.75e1
  variant carriers: 307
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.25e1
  variant carriers: 408
genotype quality: GenotypeQuality
  all individuals: 18895
  bin: 9.75e1
  variant carriers: 18894
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 2.5e0
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 7.5e0
  variant carriers: 304
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 414
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 265
hgvs: p.Gly857Ala
num of homozygotes: 2453
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-6013049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013049
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013049
    reference: chr 7
allele count: 1
allele frequency: 1.480297243686532e-5
allele num: 67554
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2570G>A
  hgvsp: ENSP00000265849.7:p.Gly857Asp
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1367G>A
  hgvsp: ENSP00000371758.4:p.Gly456Asp
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2252G>A
  hgvsp: ENSP00000392843.2:p.Gly751Asp
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly857Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

7-6013050-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013050
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013050
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 60106
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2569G>C
  hgvsp: ENSP00000265849.7:p.Gly857Arg
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1366G>C
  hgvsp: ENSP00000371758.4:p.Gly456Arg
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2251G>C
  hgvsp: ENSP00000392843.2:p.Gly751Arg
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Gly857Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-6013059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013059
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013059
    reference: chr 7
allele count: 1
allele frequency: 1.733042182246716e-5
allele num: 57702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2560G>A
  hgvsp: ENSP00000265849.7:p.Ala854Thr
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1357G>A
  hgvsp: ENSP00000371758.4:p.Ala453Thr
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2242G>A
  hgvsp: ENSP00000392843.2:p.Ala748Thr
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala854Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

7-6013060-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013060
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013060
    reference: chr 7
allele count: 14
allele frequency: 2.427016156993274e-4
allele num: 57684
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1356C>G
  hgvsp: ENSP00000371758.4:p.Ile452Met
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2559C>G
  hgvsp: ENSP00000265849.7:p.Ile853Met
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2241C>G
  hgvsp: ENSP00000392843.2:p.Ile747Met
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  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: 2
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile853Met
num of homozygotes: 2
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

7-6013065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013065
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013065
    reference: chr 7
allele count: 1
allele frequency: 1.767346505955958e-5
allele num: 56582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2554C>T
  hgvsp: ENSP00000265849.7:p.His852Tyr
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2236C>T
  hgvsp: ENSP00000392843.2:p.His746Tyr
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1351C>T
  hgvsp: ENSP00000371758.4:p.His451Tyr
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  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: 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
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His852Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

7-6013089-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013089
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013088
    reference: chr 7
allele count: 2
allele frequency: 4.380009636021199e-5
allele num: 45662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1326delT
  hgvsp: ENSP00000371758.4:p.His444MetfsTer6
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2529delT
  hgvsp: ENSP00000265849.7:p.His845MetfsTer6
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2211delT
  hgvsp: ENSP00000392843.2:p.His739MetfsTer6
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 1
hgvs: p.His845MetfsTer6
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: GA
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

7-6013093-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013093
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013093
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 43670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1323C>G
  hgvsp: ENSP00000371758.4:p.Asn441Lys
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2526C>G
  hgvsp: ENSP00000265849.7:p.Asn842Lys
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2208C>G
  hgvsp: ENSP00000392843.2:p.Asn736Lys
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21833
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn842Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

7-6013096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013096
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013096
    reference: chr 7
allele count: 39
allele frequency: 9.17388031614603e-4
allele num: 42512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1320G>A
  hgvsp: ENSP00000371758.4:p.Trp440Ter
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2205G>A
  hgvsp: ENSP00000392843.2:p.Trp735Ter
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2523G>A
  hgvsp: ENSP00000265849.7:p.Trp841Ter
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21816
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25475
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Trp841Ter
num of homozygotes: 1
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-6013102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013102
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013102
    reference: chr 7
allele count: 4
allele frequency: 1.005935016597928e-4
allele num: 39764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1314C>T
  hgvsp: ENST00000382321.4:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2517C>T
  hgvsp: ENST00000265849.7:c.2517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2199C>T
  hgvsp: ENST00000441476.2:c.2199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His839His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

7-6013107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013107
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013107
    reference: chr 7
allele count: 1
allele frequency: 2.7833444667112e-5
allele num: 35928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2512G>A
  hgvsp: ENSP00000265849.7:p.Asp838Asn
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1309G>A
  hgvsp: ENSP00000371758.4:p.Asp437Asn
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2194G>A
  hgvsp: ENSP00000392843.2:p.Asp732Asn
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp838Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

7-6013122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013122
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013122
    reference: chr 7
allele count: 1
allele frequency: 3.232897969740075e-5
allele num: 30932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2179C>T
  hgvsp: ENSP00000392843.2:p.His727Tyr
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2497C>T
  hgvsp: ENSP00000265849.7:p.His833Tyr
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1294C>T
  hgvsp: ENSP00000371758.4:p.His432Tyr
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17032
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His833Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

7-6013123-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013123
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013123
    reference: chr 7
allele count: 1
allele frequency: 3.257116800208455e-5
allele num: 30702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2178C>G
  hgvsp: ENST00000441476.2:c.2178C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2496C>G
  hgvsp: ENST00000265849.7:c.2496C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1293C>G
  hgvsp: ENST00000382321.4:c.1293C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21476
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8929
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1300
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr832Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

7-6013143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013143
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013143
    reference: chr 7
allele count: 2
allele frequency: 7.800920508620017e-5
allele num: 25638
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2476G>A
  hgvsp: ENSP00000265849.7:p.Glu826Lys
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1273G>A
  hgvsp: ENSP00000371758.4:p.Glu425Lys
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2158G>A
  hgvsp: ENSP00000392843.2:p.Glu720Lys
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20334
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Glu826Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

7-6013144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013144
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013144
    reference: chr 7
allele count: 1
allele frequency: 3.954757573360753e-5
allele num: 25286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2157C>T
  hgvsp: ENST00000441476.2:c.2157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2475C>T
  hgvsp: ENST00000265849.7:c.2475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1272C>T
  hgvsp: ENST00000382321.4:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser825Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

7-6013153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013153
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013153
    reference: chr 7
allele count: 5111
allele frequency: 2.11373035566584e-1
allele num: 24180
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2148T>C
  hgvsp: ENST00000441476.2:c.2148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2466T>C
  hgvsp: ENST00000265849.7:c.2466T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1263T>C
  hgvsp: ENST00000382321.4:c.1263T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 1.75e1
  variant carriers: 1368
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 19266
  bin: 7.5e0
  variant carriers: 2080
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 1.25e1
  variant carriers: 2298
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 19820
  bin: 2.5e0
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.25e1
  variant carriers: 711
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 156
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 412
genotype quality: GenotypeQuality
  all individuals: 18724
  bin: 7.5e0
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 6.25e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 16410
  bin: 2.25e1
  variant carriers: 177
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 1.75e1
  variant carriers: 251
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 202
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 302
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 9.75e1
  variant carriers: 4356
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 6.75e1
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 246
hgvs: p.Leu822Leu
num of homozygotes: 65
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

7-6013163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013163
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013163
    reference: chr 7
allele count: 1
allele frequency: 5.405405405405405e-5
allele num: 18500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1253G>A
  hgvsp: ENSP00000371758.4:p.Gly418Glu
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2456G>A
  hgvsp: ENSP00000265849.7:p.Gly819Glu
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2138G>A
  hgvsp: ENSP00000392843.2:p.Gly713Glu
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18781
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly819Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-6013174-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013174
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013174
    reference: chr 7
allele count: 1
allele frequency: 6.12294881214793e-5
allele num: 16332
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2446-1G>C
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2128-1G>C
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1243-1G>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2446-1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

7-6013200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013200
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013200
    reference: chr 7
allele count: 2
allele frequency: 2.292526364053187e-4
allele num: 8724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2128-27C>T
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2446-27C>T
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1243-27C>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26997
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

7-6013219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6013219
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6013219
    reference: chr 7
allele count: 1
allele frequency: 1.742767514813524e-4
allele num: 5738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2128-46C>T
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2446-46C>T
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1243-46C>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7828
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

7-6017182-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6017182
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6017182
    reference: chr 7
allele count: 1
allele frequency: 5.258729490954985e-5
allele num: 19016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1242+37C>G
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2127+37C>G
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2445+37C>G
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22635
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-6017189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6017189
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6017189
    reference: chr 7
allele count: 208
allele frequency: 1.045541369257062e-2
allele num: 19894
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2445+30A>G
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2127+30A>G
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1242+30A>G
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 1.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 20986
  bin: 7.5e0
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 25334
  bin: 2.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 21902
  bin: 7.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 6.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 17321
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 6.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 16
num of homozygotes: 3
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

7-6017190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6017190
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6017190
    reference: chr 7
allele count: 1
allele frequency: 4.990518015770037e-5
allele num: 20038
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2445+29C>T
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1242+29C>T
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2127+29C>T
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21430
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-6017197-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6017197
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 6017197
    reference: chr 7
allele count: 1
allele frequency: 4.73798919738463e-5
allele num: 21106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000371758
  ensembl transcript: ENST00000382321
  gene symbol: PMS2
  hgvsc: ENST00000382321.4:c.1242+22G>C
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000392843
  ensembl transcript: ENST00000441476
  gene symbol: PMS2
  hgvsc: ENST00000441476.2:c.2127+22G>C
  variant of: http://identifiers.org/hgnc/9122
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122512
  ensembl protein: ENSP00000265849
  ensembl transcript: ENST00000265849
  gene symbol: PMS2
  hgvsc: ENST00000265849.7:c.2445+22G>C
  variant of: http://identifiers.org/hgnc/9122
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C

GenotypeQuality
all individuals: 2494
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.346257404415724e-4
allele num: 7428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35934
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

DP
type: SiteQuality
SIO_000300: 8.87783e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.845e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.44e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.924831822170225e-4
allele num: 6838
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 3.507295173961841e-3
allele num: 7128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33750
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
SIO_000300: 5.87e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 8.53184e5

VQSLOD
type: SiteQuality
SIO_000300: -6.478e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.445504481063891e-4
allele num: 6918
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

QD
type: SiteQuality
SIO_000300: 3.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.449e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.39505e5

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.297378028542981e-5
allele num: 12052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 2.2e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

DP
type: SiteQuality
SIO_000300: 8.02517e5

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.228e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23681
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 2.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

QD
type: SiteQuality
SIO_000300: 1.659e1

DP
type: SiteQuality
SIO_000300: 7.69533e5

MQ
type: SiteQuality
SIO_000300: 2.235e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25435
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 155
bin: 7.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 2.430815258040389e-3
allele num: 5348
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 6.654835847382431e-4
allele num: 27048
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.098360655737705e-3
allele num: 488
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 7.065889418830596e-4
allele num: 11322
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.81e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.018e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 7.01932e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 2.2e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.604492579221821e-4
allele num: 24930
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 6.53257e5

VQSLOD
type: SiteQuality
SIO_000300: -6.364e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.743e0

QD
type: SiteQuality
SIO_000300: 8.83e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.914608462569405e-4
allele num: 10446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23290
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

DP
type: SiteQuality
SIO_000300: 6.16997e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.964e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

QD
type: SiteQuality
SIO_000300: 4.74e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.626630887387804e-5
allele num: 21614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4104
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.656e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 6.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

VQSLOD
type: SiteQuality
SIO_000300: -8.343e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.76198e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 2.2e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2048
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 1.485736925515056e-4
allele num: 20192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

DP
type: SiteQuality
SIO_000300: 5.44987e5

MQ
type: SiteQuality
SIO_000300: 2.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.483e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 7.32421875e-4
allele num: 4096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.919e0

QD
type: SiteQuality
SIO_000300: 4.97e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 2.2e1

DP
type: SiteQuality
SIO_000300: 4.89865e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 1.213297743266198e-4
allele num: 8242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.232741617357002e-4
allele num: 16224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 6.34e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 4.72819e5

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -7.743e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.379178361826996e-5
allele num: 15676
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.232134056185313e-4
allele num: 8116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.99e0

DP
type: SiteQuality
SIO_000300: 4.63303e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQ
type: SiteQuality
SIO_000300: 2.2e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.775e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1252
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 18885
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GenotypeQuality
all individuals: 2374
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2754
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.573042312847023e-5
allele num: 10446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 2.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.55e0

DP
type: SiteQuality
SIO_000300: 3.63581e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 327
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GenotypeQuality
all individuals: 17
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
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African
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allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 606
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1248
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.47e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.81501e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 200
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 1.655629139072848e-3
allele num: 604
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African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 30
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1940
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South Asian
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allele frequency: 7.6103500761035e-4
allele num: 5256
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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South Asian
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allele frequency: 1.830831197363603e-4
allele num: 5462
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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East Asian
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allele count: 0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.34e-2

DP
type: SiteQuality
SIO_000300: 1.00403e5

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.292e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.04e0

South Asian
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allele frequency: 1.858045336306206e-4
allele num: 5382
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2030
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Other
type: Population
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DP
type: SiteQuality
SIO_000300: 1.0769e5

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

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

Latino
type: Population
allele count: 0
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African
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allele count: 2
allele frequency: 2.941176470588235e-3
allele num: 680
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4104
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.38e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.904e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.158e1

Latino
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allele frequency: 0.0e0
allele num: 312
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Other
type: Population
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: 130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
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SIO_000300: 3.2431e5

South 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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East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.31974e5

VQSLOD
type: SiteQuality
SIO_000300: -2.746e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

MQ
type: SiteQuality
SIO_000300: 3.7e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.300595238095238e-5
allele num: 10752
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3828e1

DP
type: SiteQuality
SIO_000300: 7.35489e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.314e0

MQRankSum
type: SiteQuality
SIO_000300: -1.989e0

QD
type: SiteQuality
SIO_000300: 2.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.259e0

VQSLOD
type: SiteQuality
SIO_000300: -4.192e0

MQ
type: SiteQuality
SIO_000300: 4.138e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.751782096495835e-5
allele num: 26654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 7.51421e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

QD
type: SiteQuality
SIO_000300: 6.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.876e0

MQ
type: SiteQuality
SIO_000300: 3.924e1

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

South Asian
type: Population
allele count: 9
allele frequency: 8.124210146235783e-4
allele num: 11078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.7e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 4.646e0

DP
type: SiteQuality
SIO_000300: 7.68866e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.217e0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.975586404978459e-5
allele num: 33424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.519338899301415e-5
allele num: 11738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 2.977e0

MQ
type: SiteQuality
SIO_000300: 3.7e1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

DP
type: SiteQuality
SIO_000300: 8.7483e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 4.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.196744853997128e-4
allele num: 33424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQ
type: SiteQuality
SIO_000300: 3.7e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 8.7483e5

FS
type: SiteQuality
SIO_000300: 2.977e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 4.26e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -2.65e0

DP
type: SiteQuality
SIO_000300: 8.84397e5

FS
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 3.971e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.137426149499101e-5
allele num: 38930
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.25224e5

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 3.7e1

FS
type: SiteQuality
SIO_000300: 1.338e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.459e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.729761787091035e-4
allele num: 40468
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

QD
type: SiteQuality
SIO_000300: 8.76e0

MQ
type: SiteQuality
SIO_000300: 3.7e1

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 9.4352e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.235e0

FS
type: SiteQuality
SIO_000300: 4.815e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.7e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.027e0

QD
type: SiteQuality
SIO_000300: 9.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.055134e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.979465955668749e-5
allele num: 50258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.666e1

QD
type: SiteQuality
SIO_000300: 8.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 1.078504e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.96e0

FS
type: SiteQuality
SIO_000300: 2.023e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.526e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 3.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.763e0

MQ
type: SiteQuality
SIO_000300: 3.675e1

DP
type: SiteQuality
SIO_000300: 1.062378e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13744
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 4.044e1

DP
type: SiteQuality
SIO_000300: 1.047e6

VQSLOD
type: SiteQuality
SIO_000300: -2.751e0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.072874493927126e-5
allele num: 49400
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13694
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 3.665e1

FS
type: SiteQuality
SIO_000300: 2.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.982e0

DP
type: SiteQuality
SIO_000300: 1.029857e6

QD
type: SiteQuality
SIO_000300: 1.76e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.99e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 3.644e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.168e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.545e0

DP
type: SiteQuality
SIO_000300: 1.024074e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.353546291283162e-4
allele num: 7388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

MQ
type: SiteQuality
SIO_000300: 3.7e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.01973e6

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48674
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

MQ
type: SiteQuality
SIO_000300: 3.674e1

FS
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.008309e6

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.674353381115612e-4
allele num: 6418
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 7.355104442483083e-5
allele num: 13596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

DP
type: SiteQuality
SIO_000300: 1.008309e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

MQ
type: SiteQuality
SIO_000300: 3.674e1

FS
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 3.333e0

MQ
type: SiteQuality
SIO_000300: 3.667e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 9.98815e5

QD
type: SiteQuality
SIO_000300: 1.822e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.323101349563376e-4
allele num: 7558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.667e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

QD
type: SiteQuality
SIO_000300: 1.822e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 3.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 9.98815e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.095996646405366e-5
allele num: 47710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQ
type: SiteQuality
SIO_000300: 3.643e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

FS
type: SiteQuality
SIO_000300: 2.943e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 9.87957e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43970
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.223e0

QD
type: SiteQuality
SIO_000300: 2.578e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.489e1

DP
type: SiteQuality
SIO_000300: 8.64466e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5988
num of homozygotes: 0

African
type: Population
allele count: 62
allele frequency: 9.624340266997827e-3
allele num: 6442
num of homozygotes: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.95e-1

MQ
type: SiteQuality
SIO_000300: 3.515e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 8.52469e5

VQSLOD
type: SiteQuality
SIO_000300: -2.169e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

South Asian
type: Population
allele count: 2
allele frequency: 1.646090534979424e-4
allele num: 12150
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 8.043758043758043e-4
allele num: 6216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.052503052503053e-4
allele num: 6552
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 1.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.116e0

VQSLOD
type: SiteQuality
SIO_000300: -2.721e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.503e1

QD
type: SiteQuality
SIO_000300: 6.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 8.12574e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

QD
type: SiteQuality
SIO_000300: 3.63e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.029e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQ
type: SiteQuality
SIO_000300: 3.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 1.378e0

DP
type: SiteQuality
SIO_000300: 7.9325e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.247e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30922
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.487e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 6.43e0

MQ
type: SiteQuality
SIO_000300: 3.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.367e0

DP
type: SiteQuality
SIO_000300: 6.72247e5

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.530825496342738e-5
allele num: 30624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.237e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 6.61702e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 3.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.206e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.398e0

DP
type: SiteQuality
SIO_000300: 6.64682e5

East Asian
type: Population
allele count: 3
allele frequency: 6.278777731268313e-4
allele num: 4778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

DP
type: SiteQuality
SIO_000300: 6.97967e5

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 3.292e1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -3.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.762e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.129471890971039e-4
allele num: 4696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 3.292e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 1.762e0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

DP
type: SiteQuality
SIO_000300: 6.97967e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.823e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.595e0

DP
type: SiteQuality
SIO_000300: 7.01845e5

QD
type: SiteQuality
SIO_000300: 4.68e0

GenotypeQuality
all individuals: 845
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.049180327868852e-4
allele num: 4880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

QD
type: SiteQuality
SIO_000300: 1.916e1

MQ
type: SiteQuality
SIO_000300: 3.237e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.49886e5

VQSLOD
type: SiteQuality
SIO_000300: -2.827e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 5871
bin: 6.25e1
variant carriers: 284

GenotypeQuality
all individuals: 397
bin: 7.75e1
variant carriers: 349

Latino
type: Population
allele count: 2215
allele frequency: 4.006874095513748e-1
allele num: 5528
num of homozygotes: 196

East Asian
type: Population
allele count: 2248
allele frequency: 4.197162061239731e-1
allele num: 5356
num of homozygotes: 226

European (Finnish)
type: Population
allele count: 1272
allele frequency: 3.195979899497488e-1
allele num: 3980
num of homozygotes: 115

South Asian
type: Population
allele count: 4127
allele frequency: 3.807195571955719e-1
allele num: 10840
num of homozygotes: 435

Other
type: Population
allele count: 194
allele frequency: 3.368055555555556e-1
allele num: 576
num of homozygotes: 17

African
type: Population
allele count: 2417
allele frequency: 4.27787610619469e-1
allele num: 5650
num of homozygotes: 339

European (Non-Finnish)
type: Population
allele count: 12536
allele frequency: 3.518975971255334e-1
allele num: 35624
num of homozygotes: 1125

MQ
type: SiteQuality
SIO_000300: 3.238e1

VQSLOD
type: SiteQuality
SIO_000300: -2.468e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

DP
type: SiteQuality
SIO_000300: 9.49661e5

QD
type: SiteQuality
SIO_000300: 1.388e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
all individuals: 308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.807096339546373e-5
allele num: 35624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.468e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 9.49661e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 3.238e1

GenotypeQuality
all individuals: 956
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.113e0

QD
type: SiteQuality
SIO_000300: 1.501e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQ
type: SiteQuality
SIO_000300: 3.09e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.024e0

DP
type: SiteQuality
SIO_000300: 7.84633e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 13083
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.285366975491162e-5
allele num: 30438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

DP
type: SiteQuality
SIO_000300: 7.57868e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.201e0

MQ
type: SiteQuality
SIO_000300: 3.172e1

GenotypeQuality
all individuals: 255
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 2.958190901919537e-4
allele num: 30424
num of homozygotes: 1

Other
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allele frequency: 0.0e0
allele num: 502
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South Asian
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allele frequency: 5.227938101212882e-4
allele num: 9564
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 4780
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.274e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
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MQ
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 506
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European (Non-Finnish)
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allele frequency: 3.34627225271048e-5
allele num: 29884
num of homozygotes: 0

DP
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InbreedingCoeff
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SIO_000300: -1.69e-2

ClippingRankSum
type: SiteQuality
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 2.518257365902795e-4
allele num: 7942
num of homozygotes: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3012
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23928
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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QD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2660
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.069e1

DP
type: SiteQuality
SIO_000300: 5.88731e5

QD
type: SiteQuality
SIO_000300: 2.484e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 39
allele frequency: 1.046698872785829e-2
allele num: 3726
num of homozygotes: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3442
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.909e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.68e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.77599e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.226e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2436
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2362
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 5.50812448361333e-4
allele num: 7262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 20652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 3.216e1

MQRankSum
type: SiteQuality
SIO_000300: -1.226e0

VQSLOD
type: SiteQuality
SIO_000300: -4.186e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

DP
type: SiteQuality
SIO_000300: 5.48634e5

QD
type: SiteQuality
SIO_000300: 4.58e0

GenotypeQuality
all individuals: 60
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.393743257820928e-5
allele num: 18540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 5.15465e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.883e0

MQ
type: SiteQuality
SIO_000300: 3.205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.51e-2

QD
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
all individuals: 3547
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2424
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.65508109897385e-4
allele num: 6042
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -3.803e0

MQ
type: SiteQuality
SIO_000300: 3.269e1

DP
type: SiteQuality
SIO_000300: 4.73441e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.98e-1

QD
type: SiteQuality
SIO_000300: 2.8e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.263157894736842e-4
allele num: 1900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1994
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1588
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.514004542013626e-4
allele num: 13210
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.375209380234506e-4
allele num: 1194
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.223e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 324

GenotypeQuality
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variant carriers: 40

Other
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allele frequency: 1.983471074380165e-1
allele num: 242
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European (Finnish)
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allele frequency: 2.228835978835979e-1
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Latino
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allele frequency: 1.4548802946593e-1
allele num: 1086
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European (Non-Finnish)
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allele frequency: 2.51538097491718e-1
allele num: 12678
num of homozygotes: 24

African
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allele frequency: 8.480565371024736e-2
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East Asian
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allele frequency: 6.786102062975027e-2
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South Asian
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allele count: 1062
allele frequency: 2.33099209833187e-1
allele num: 4556
num of homozygotes: 27

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.051303616484441e-4
allele num: 9512
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Latino
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East Asian
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African
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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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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Latino
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East Asian
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African
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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DP
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.834862385321101e-3
allele num: 1090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 3.269e1

QD
type: SiteQuality
SIO_000300: 5.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 2.20448e5

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.757e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 17
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.244646333549643e-4
allele num: 3082
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.88524e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.53e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.468e0

MQ
type: SiteQuality
SIO_000300: 3.312e1

QD
type: SiteQuality
SIO_000300: 1.002e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.284356537374775e-4
allele num: 7786
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.286e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.82e-2

FS
type: SiteQuality
SIO_000300: 3.222e0

VQSLOD
type: SiteQuality
SIO_000300: -5.901e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

QD
type: SiteQuality
SIO_000300: 6.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

DP
type: SiteQuality
SIO_000300: 3.95842e5

GenotypeQuality
all individuals: 716
bin: 9.75e1
variant carriers: 146

European (Non-Finnish)
type: Population
allele count: 97
allele frequency: 1.250644662197009e-2
allele num: 7756
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 2.617801047120419e-3
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 93
allele frequency: 1.1709896751448e-2
allele num: 7942
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 8.064516129032258e-3
allele num: 372
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 3.125e-2
allele num: 224
num of homozygotes: 1

African
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allele count: 6
allele frequency: 3.092783505154639e-3
allele num: 1940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.018e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 4.23707e5

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 2.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 7.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.278772378516624e-4
allele num: 7820
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 894
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1954
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7984
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.255e0

MQ
type: SiteQuality
SIO_000300: 2.299e1

QD
type: SiteQuality
SIO_000300: 4.97e0

FS
type: SiteQuality
SIO_000300: 2.228e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

DP
type: SiteQuality
SIO_000300: 4.27806e5

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
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African
type: Population
allele count: 1
allele frequency: 4.812319538017325e-4
allele num: 2078
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8150
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