7-124481117-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481117
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481117
    reference: chr 7
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1279A>G
  hgvsp: ENSP00000476981.1:p.Lys427Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1279A>G
  hgvsp: ENSP00000350249.3:p.Lys427Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.559A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*376A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1279A>G
  hgvsp: ENSP00000476506.1:p.Lys427Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.886A>G
  hgvsp: ENSP00000377002.1:p.Lys296Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.142A>G
  hgvsp: ENSP00000477320.1:p.Lys48Glu
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys427Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

7-124481127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481127
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481127
    reference: chr 7
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.549C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*366C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1269C>T
  hgvsp: ENST00000357628.3:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1269C>T
  hgvsp: ENST00000609106.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.876C>T
  hgvsp: ENST00000393329.1:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.132C>T
  hgvsp: ENST00000608200.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1269C>T
  hgvsp: ENST00000607932.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile423Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

7-124481127-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481127
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481127
    reference: chr 7
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.132C>G
  hgvsp: ENSP00000477320.1:p.Ile44Met
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1269C>G
  hgvsp: ENSP00000350249.3:p.Ile423Met
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.876C>G
  hgvsp: ENSP00000377002.1:p.Ile292Met
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*366C>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1269C>G
  hgvsp: ENSP00000476981.1:p.Ile423Met
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1269C>G
  hgvsp: ENSP00000476506.1:p.Ile423Met
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.549C>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile423Met
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

7-124481140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481140
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481140
    reference: chr 7
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*353A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.536A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1256A>G
  hgvsp: ENSP00000476506.1:p.Tyr419Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1256A>G
  hgvsp: ENSP00000350249.3:p.Tyr419Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1256A>G
  hgvsp: ENSP00000476981.1:p.Tyr419Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.863A>G
  hgvsp: ENSP00000377002.1:p.Tyr288Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.119A>G
  hgvsp: ENSP00000477320.1:p.Tyr40Cys
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr419Cys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

7-124481141-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481141
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481141
    reference: chr 7
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*352T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.118T>C
  hgvsp: ENSP00000477320.1:p.Tyr40His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.535T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1255T>C
  hgvsp: ENSP00000350249.3:p.Tyr419His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.862T>C
  hgvsp: ENSP00000377002.1:p.Tyr288His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1255T>C
  hgvsp: ENSP00000476981.1:p.Tyr419His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1255T>C
  hgvsp: ENSP00000476506.1:p.Tyr419His
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr419His
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

7-124481150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481150
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481150
    reference: chr 7
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.853A>G
  hgvsp: ENSP00000377002.1:p.Thr285Ala
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*343A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.109A>G
  hgvsp: ENSP00000477320.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.526A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1246A>G
  hgvsp: ENSP00000476981.1:p.Thr416Ala
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1246A>G
  hgvsp: ENSP00000476506.1:p.Thr416Ala
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1246A>G
  hgvsp: ENSP00000350249.3:p.Thr416Ala
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr416Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

7-124481163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481163
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481163
    reference: chr 7
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.96C>T
  hgvsp: ENST00000608200.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.513C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*330C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1233C>T
  hgvsp: ENST00000357628.3:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1233C>T
  hgvsp: ENST00000609106.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.840C>T
  hgvsp: ENST00000393329.1:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1233C>T
  hgvsp: ENST00000607932.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val411Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

7-124481168-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481168
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481168
    reference: chr 7
allele count: 62
allele frequency: 5.111462867695555e-4
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.835G>C
  hgvsp: ENSP00000377002.1:p.Asp279His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.91G>C
  hgvsp: ENSP00000477320.1:p.Asp31His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.508G>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1228G>C
  hgvsp: ENSP00000350249.3:p.Asp410His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1228G>C
  hgvsp: ENSP00000476506.1:p.Asp410His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*325G>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1228G>C
  hgvsp: ENSP00000476981.1:p.Asp410His
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 9.75e1
  variant carriers: 62
hgvs: p.Asp410His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

7-124481169-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481169
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481169
    reference: chr 7
allele count: 30
allele frequency: 2.473247704001715e-4
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.507A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*324A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.834A>C
  hgvsp: ENST00000393329.1:c.834A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1227A>C
  hgvsp: ENST00000357628.3:c.1227A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1227A>C
  hgvsp: ENST00000607932.1:c.1227A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.90A>C
  hgvsp: ENST00000608200.1:c.90A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1227A>C
  hgvsp: ENST00000609106.1:c.1227A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro409Pro
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

7-124481177-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481177
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481177
    reference: chr 7
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.826A>G
  hgvsp: ENSP00000377002.1:p.Lys276Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.499A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1219A>G
  hgvsp: ENSP00000476981.1:p.Lys407Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*316A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.82A>G
  hgvsp: ENSP00000477320.1:p.Lys28Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1219A>G
  hgvsp: ENSP00000350249.3:p.Lys407Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1219A>G
  hgvsp: ENSP00000476506.1:p.Lys407Glu
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys407Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

7-124481183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481183
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481183
    reference: chr 7
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.820G>A
  hgvsp: ENSP00000377002.1:p.Ala274Thr
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.493G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1213G>A
  hgvsp: ENSP00000476506.1:p.Ala405Thr
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*310G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1213G>A
  hgvsp: ENSP00000476981.1:p.Ala405Thr
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.76G>A
  hgvsp: ENSP00000477320.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1213G>A
  hgvsp: ENSP00000350249.3:p.Ala405Thr
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala405Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-124481185-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481185
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481185
    reference: chr 7
allele count: 1646
allele frequency: 1.357145212888757e-2
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*308G>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.74G>T
  hgvsp: ENSP00000477320.1:p.Gly25Val
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1211G>T
  hgvsp: ENSP00000476506.1:p.Gly404Val
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.818G>T
  hgvsp: ENSP00000377002.1:p.Gly273Val
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1211G>T
  hgvsp: ENSP00000350249.3:p.Gly404Val
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.491G>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1211G>T
  hgvsp: ENSP00000476981.1:p.Gly404Val
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38035
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 10237
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 1083
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35458
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly404Val
num of homozygotes: 28
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-124481185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481185
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481185
    reference: chr 7
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1211G>A
  hgvsp: ENSP00000476981.1:p.Gly404Asp
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.74G>A
  hgvsp: ENSP00000477320.1:p.Gly25Asp
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1211G>A
  hgvsp: ENSP00000350249.3:p.Gly404Asp
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1211G>A
  hgvsp: ENSP00000476506.1:p.Gly404Asp
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.818G>A
  hgvsp: ENSP00000377002.1:p.Gly273Asp
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.491G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly404Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-124481203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481203
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481203
    reference: chr 7
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.473A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.800A>G
  hgvsp: ENSP00000377002.1:p.Asp267Gly
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1193A>G
  hgvsp: ENSP00000476506.1:p.Asp398Gly
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*290A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.56A>G
  hgvsp: ENSP00000477320.1:p.Asp19Gly
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1193A>G
  hgvsp: ENSP00000476981.1:p.Asp398Gly
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1193A>G
  hgvsp: ENSP00000350249.3:p.Asp398Gly
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp398Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-124481204-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481204
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481204
    reference: chr 7
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1192G>C
  hgvsp: ENSP00000350249.3:p.Asp398His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*289G>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.472G>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.55G>C
  hgvsp: ENSP00000477320.1:p.Asp19His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1192G>C
  hgvsp: ENSP00000476506.1:p.Asp398His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1192G>C
  hgvsp: ENSP00000476981.1:p.Asp398His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.799G>C
  hgvsp: ENSP00000377002.1:p.Asp267His
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp398His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

7-124481210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481210
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481210
    reference: chr 7
allele count: 6
allele frequency: 4.950086626515964e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.793G>A
  hgvsp: ENSP00000377002.1:p.Asp265Asn
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.49G>A
  hgvsp: ENSP00000477320.1:p.Asp17Asn
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.466G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1186G>A
  hgvsp: ENSP00000476506.1:p.Asp396Asn
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1186G>A
  hgvsp: ENSP00000476981.1:p.Asp396Asn
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1186G>A
  hgvsp: ENSP00000350249.3:p.Asp396Asn
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*283G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp396Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-124481211-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481211
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481211
    reference: chr 7
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.465C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1185C>T
  hgvsp: ENST00000609106.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1185C>T
  hgvsp: ENST00000357628.3:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.48C>T
  hgvsp: ENST00000608200.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1185C>T
  hgvsp: ENST00000607932.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.792C>T
  hgvsp: ENST00000393329.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*282C>T
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly395Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

7-124481213-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481213
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481213
    reference: chr 7
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1183G>A
  hgvsp: ENSP00000476506.1:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.46G>A
  hgvsp: ENSP00000477320.1:p.Gly16Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1183G>A
  hgvsp: ENSP00000350249.3:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1183G>A
  hgvsp: ENSP00000476981.1:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*280G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.790G>A
  hgvsp: ENSP00000377002.1:p.Gly264Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.463G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly395Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

7-124481215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481215
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481215
    reference: chr 7
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.461A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.788A>G
  hgvsp: ENSP00000377002.1:p.Glu263Gly
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1181A>G
  hgvsp: ENSP00000476981.1:p.Glu394Gly
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*278A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1181A>G
  hgvsp: ENSP00000476506.1:p.Glu394Gly
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.44A>G
  hgvsp: ENSP00000477320.1:p.Glu15Gly
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1181A>G
  hgvsp: ENSP00000350249.3:p.Glu394Gly
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu394Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

7-124481218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481218
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481218
    reference: chr 7
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1178A>G
  hgvsp: ENSP00000350249.3:p.His393Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*275A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.458A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.41A>G
  hgvsp: ENSP00000477320.1:p.His14Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.785A>G
  hgvsp: ENSP00000377002.1:p.His262Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1178A>G
  hgvsp: ENSP00000476981.1:p.His393Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1178A>G
  hgvsp: ENSP00000476506.1:p.His393Arg
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His393Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

7-124481228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481228
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481228
    reference: chr 7
allele count: 5
allele frequency: 4.128614602084125e-5
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.775G>A
  hgvsp: ENSP00000377002.1:p.Glu259Lys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.448G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.31G>A
  hgvsp: ENSP00000477320.1:p.Glu11Lys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*265G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1168G>A
  hgvsp: ENSP00000476506.1:p.Glu390Lys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1168G>A
  hgvsp: ENSP00000476981.1:p.Glu390Lys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1168G>A
  hgvsp: ENSP00000350249.3:p.Glu390Lys
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu390Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

7-124481229-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481229
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481229
    reference: chr 7
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.774A>G
  hgvsp: ENST00000393329.1:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1167A>G
  hgvsp: ENST00000607932.1:c.1167A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*264A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1167A>G
  hgvsp: ENST00000609106.1:c.1167A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.447A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.30A>G
  hgvsp: ENST00000608200.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1167A>G
  hgvsp: ENST00000357628.3:c.1167A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln389Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-124481240-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481240
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481240
    reference: chr 7
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-8A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-8A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-8A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-8A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-8A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-8A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-8A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1164-8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-124481245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481245
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481245
    reference: chr 7
allele count: 49711
allele frequency: 4.113786825554452e-1
allele num: 120840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-13C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-13C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-13C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-13C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-13C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-13C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-13C>T
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 9.25e1
  variant carriers: 1848
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 7.25e1
  variant carriers: 3126
genotype depth: GenotypeDepth
  all individuals: 13131
  bin: 2.25e1
  variant carriers: 407
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 9.75e1
  variant carriers: 8932
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 1849
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.25e1
  variant carriers: 1456
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 903
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 6.75e1
  variant carriers: 3079
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 2.75e1
  variant carriers: 651
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 2271
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 8.25e1
  variant carriers: 2635
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 7.75e1
  variant carriers: 2990
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 8.75e1
  variant carriers: 2329
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 5.75e1
  variant carriers: 2573
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 1175
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 6.25e1
  variant carriers: 2846
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 12674
  bin: 6.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 40737
  bin: 9.75e1
  variant carriers: 38800
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 25
num of homozygotes: 10311
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

7-124481246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481246
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481246
    reference: chr 7
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-14G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-14G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-14G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-14G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-14G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-14G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-14G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

7-124481253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481253
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481253
    reference: chr 7
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-21T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-21T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-21T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-21T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-21T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-21T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-21T>C
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

7-124481257-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481257
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481257
    reference: chr 7
allele count: 2
allele frequency: 1.661543573980228e-5
allele num: 120370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-25A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-25A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-25A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-25A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-25A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-25A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-25A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-124481262-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481262
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481262
    reference: chr 7
allele count: 2
allele frequency: 1.662620955674525e-5
allele num: 120292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-30T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-30T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-30T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-30T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-30T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-30T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-30T>C
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17802
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

7-124481264-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481264
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481264
    reference: chr 7
allele count: 2
allele frequency: 1.663367654152597e-5
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-32G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-32G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-32G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-32G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-32G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-32G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-32G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-124481265-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481265
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481265
    reference: chr 7
allele count: 3
allele frequency: 2.49613099695472e-5
allele num: 120186
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-33C>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-33C>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-33C>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-33C>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-33C>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-33C>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-33C>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13464
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

7-124481266-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481266
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481265
    reference: chr 7
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-35delA
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-35delA
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-35delA
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-35delA
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-35delA
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-35delA
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-35delA
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: AT
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

7-124481269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481269
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481269
    reference: chr 7
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-37A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-37A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-37A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-37A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-37A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-37A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-37A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17798
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-124481272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481272
    reference: chr 7
allele count: 2
allele frequency: 1.667556029882604e-5
allele num: 119936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-40C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-40C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-40C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-40C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-40C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-40C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-40C>T
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

7-124481279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481279
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481279
    reference: chr 7
allele count: 1
allele frequency: 8.363861427543869e-6
allele num: 119562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-47G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-47G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-47G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-47G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-47G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-47G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-47G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

7-124481280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124481280
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124481280
    reference: chr 7
allele count: 4
allele frequency: 3.346776217808196e-5
allele num: 119518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1164-48C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*261-48C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.27-48C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1164-48C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.771-48C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.444-48C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1164-48C>T
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17787
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

7-124482816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482816
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482816
    reference: chr 7
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+45G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+45G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+45G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+45G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+45G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+45G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+45G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9422
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

7-124482822-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482822
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482822
    reference: chr 7
allele count: 2
allele frequency: 1.66347833319471e-5
allele num: 120230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+39A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+39A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+39A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+39A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+39A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+39A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+39A>C
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

7-124482825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482825
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482825
    reference: chr 7
allele count: 2
allele frequency: 1.662869780667476e-5
allele num: 120274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+36A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+36A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+36A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+36A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+36A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+36A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+36A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-124482832-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482832
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482832
    reference: chr 7
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+29T>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+29T>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+29T>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+29T>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+29T>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+29T>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+29T>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

7-124482832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482832
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482832
    reference: chr 7
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+29T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+29T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+29T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+29T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+29T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+29T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+29T>C
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

7-124482833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482833
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482833
    reference: chr 7
allele count: 5
allele frequency: 4.153720903185073e-5
allele num: 120374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+28G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+28G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+28G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+28G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+28G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+28G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+28G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

7-124482834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482834
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482834
    reference: chr 7
allele count: 3
allele frequency: 2.490287877278613e-5
allele num: 120468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+27C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+27C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+27C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+27C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+27C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+27C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+27C>T
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

7-124482843-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482843
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482843
    reference: chr 7
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+18T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+18T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+18T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+18T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+18T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+18T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+18T>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 28001
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

7-124482844-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482844
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482844
    reference: chr 7
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+17A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+17A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+17A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+17A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+17A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+17A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+17A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

7-124482846-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482846
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482846
    reference: chr 7
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000477320
  ensembl transcript: ENST00000608200
  gene symbol: POT1
  hgvsc: ENST00000608200.1:c.26+15T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1163+15T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.770+15T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*260+15T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1163+15T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1163+15T>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.443+15T>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28042
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

7-124482894-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482894
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482894
    reference: chr 7
allele count: 4
allele frequency: 3.298153034300791e-5
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1130C>G
  hgvsp: ENSP00000476506.1:p.Ser377Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.737C>G
  hgvsp: ENSP00000377002.1:p.Ser246Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*227C>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1130C>G
  hgvsp: ENSP00000350249.3:p.Ser377Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1130C>G
  hgvsp: ENSP00000476981.1:p.Ser377Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.410C>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser377Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

7-124482897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482897
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482897
    reference: chr 7
allele count: 48
allele frequency: 3.957392078620189e-4
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*224A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1127A>G
  hgvsp: ENSP00000476506.1:p.Gln376Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1127A>G
  hgvsp: ENSP00000350249.3:p.Gln376Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.407A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1127A>G
  hgvsp: ENSP00000476981.1:p.Gln376Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.734A>G
  hgvsp: ENSP00000377002.1:p.Gln245Arg
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28281
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln376Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

7-124482902-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482902
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482902
    reference: chr 7
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.729A>C
  hgvsp: ENST00000393329.1:c.729A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1122A>C
  hgvsp: ENST00000609106.1:c.1122A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*219A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.402A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1122A>C
  hgvsp: ENST00000607932.1:c.1122A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1122A>C
  hgvsp: ENST00000357628.3:c.1122A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu374Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

7-124482904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482904
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482904
    reference: chr 7
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*217C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1120C>T
  hgvsp: ENST00000609106.1:c.1120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1120C>T
  hgvsp: ENST00000357628.3:c.1120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.727C>T
  hgvsp: ENST00000393329.1:c.727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1120C>T
  hgvsp: ENST00000607932.1:c.1120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.400C>T
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu374Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

7-124482917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482917
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482917
    reference: chr 7
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1107T>C
  hgvsp: ENST00000609106.1:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1107T>C
  hgvsp: ENST00000607932.1:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*204T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.714T>C
  hgvsp: ENST00000393329.1:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.387T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1107T>C
  hgvsp: ENST00000357628.3:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr369Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

7-124482918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482918
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482918
    reference: chr 7
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1106A>G
  hgvsp: ENSP00000476506.1:p.Tyr369Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1106A>G
  hgvsp: ENSP00000476981.1:p.Tyr369Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1106A>G
  hgvsp: ENSP00000350249.3:p.Tyr369Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*203A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.713A>G
  hgvsp: ENSP00000377002.1:p.Tyr238Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.386A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr369Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

7-124482921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482921
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482921
    reference: chr 7
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1103C>T
  hgvsp: ENSP00000476506.1:p.Ser368Leu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1103C>T
  hgvsp: ENSP00000476981.1:p.Ser368Leu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1103C>T
  hgvsp: ENSP00000350249.3:p.Ser368Leu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.383C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.710C>T
  hgvsp: ENSP00000377002.1:p.Ser237Leu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*200C>T
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser368Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-124482931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482931
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482931
    reference: chr 7
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1093A>G
  hgvsp: ENSP00000476981.1:p.Lys365Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1093A>G
  hgvsp: ENSP00000350249.3:p.Lys365Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*190A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.373A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1093A>G
  hgvsp: ENSP00000476506.1:p.Lys365Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.700A>G
  hgvsp: ENSP00000377002.1:p.Lys234Glu
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44050
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys365Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

7-124482936-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482936
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482936
    reference: chr 7
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.368G>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1088G>C
  hgvsp: ENSP00000476506.1:p.Arg363Pro
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1088G>C
  hgvsp: ENSP00000476981.1:p.Arg363Pro
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1088G>C
  hgvsp: ENSP00000350249.3:p.Arg363Pro
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.695G>C
  hgvsp: ENSP00000377002.1:p.Arg232Pro
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*185G>C
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg363Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

7-124482936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482936
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482936
    reference: chr 7
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1088G>A
  hgvsp: ENSP00000476981.1:p.Arg363Gln
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.368G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1088G>A
  hgvsp: ENSP00000350249.3:p.Arg363Gln
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1088G>A
  hgvsp: ENSP00000476506.1:p.Arg363Gln
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.695G>A
  hgvsp: ENSP00000377002.1:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*185G>A
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg363Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

7-124482937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482937
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482937
    reference: chr 7
allele count: 5
allele frequency: 4.126297720633139e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1087C>T
  hgvsp: ENSP00000350249.3:p.Arg363Ter
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*184C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1087C>T
  hgvsp: ENSP00000476981.1:p.Arg363Ter
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1087C>T
  hgvsp: ENSP00000476506.1:p.Arg363Ter
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.367C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.694C>T
  hgvsp: ENSP00000377002.1:p.Arg232Ter
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg363Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS

7-124482943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482943
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482943
    reference: chr 7
allele count: 2
allele frequency: 1.651391297167864e-5
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.361C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.688C>T
  hgvsp: ENSP00000377002.1:p.Arg230Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*178C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1081C>T
  hgvsp: ENSP00000476506.1:p.Arg361Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1081C>T
  hgvsp: ENSP00000350249.3:p.Arg361Cys
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1081C>T
  hgvsp: ENSP00000476981.1:p.Arg361Cys
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg361Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

7-124482947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482947
    reference: chr 7
allele count: 24
allele frequency: 1.982684554887318e-4
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1077A>G
  hgvsp: ENST00000609106.1:c.1077A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*174A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.357A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1077A>G
  hgvsp: ENST00000357628.3:c.1077A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1077A>G
  hgvsp: ENST00000607932.1:c.1077A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.684A>G
  hgvsp: ENST00000393329.1:c.684A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln359Gln
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-124482948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482948
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482948
    reference: chr 7
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1076A>G
  hgvsp: ENSP00000476981.1:p.Gln359Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1076A>G
  hgvsp: ENSP00000476506.1:p.Gln359Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1076A>G
  hgvsp: ENSP00000350249.3:p.Gln359Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.683A>G
  hgvsp: ENSP00000377002.1:p.Gln228Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*173A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.356A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln359Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-124482950-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482950
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482950
    reference: chr 7
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.354A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1074A>C
  hgvsp: ENSP00000476506.1:p.Gln358His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1074A>C
  hgvsp: ENSP00000350249.3:p.Gln358His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1074A>C
  hgvsp: ENSP00000476981.1:p.Gln358His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*171A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.681A>C
  hgvsp: ENSP00000377002.1:p.Gln227His
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln358His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-124482952-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482952
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482953
    reference: chr 7
allele count: 7
allele frequency: 5.786271657188203e-5
allele num: 120976
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1071dupT
  hgvsp: ENSP00000476981.1:p.Gln358SerfsTer13
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*168dupT
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.678dupT
  hgvsp: ENSP00000377002.1:p.Gln227SerfsTer13
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1071dupT
  hgvsp: ENSP00000476506.1:p.Gln358SerfsTer13
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1071dupT
  hgvsp: ENSP00000350249.3:p.Gln358SerfsTer13
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.351dupT
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln358SerfsTer13
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

7-124482955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482955
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482955
    reference: chr 7
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1069C>T
  hgvsp: ENSP00000476506.1:p.Pro357Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1069C>T
  hgvsp: ENSP00000476981.1:p.Pro357Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.676C>T
  hgvsp: ENSP00000377002.1:p.Pro226Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.349C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1069C>T
  hgvsp: ENSP00000350249.3:p.Pro357Ser
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro357Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-124482955-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482955
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482955
    reference: chr 7
allele count: 2
allele frequency: 1.654533421575116e-5
allele num: 120880
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1069C>G
  hgvsp: ENSP00000350249.3:p.Pro357Ala
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*166C>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.676C>G
  hgvsp: ENSP00000377002.1:p.Pro226Ala
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.349C>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1069C>G
  hgvsp: ENSP00000476981.1:p.Pro357Ala
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1069C>G
  hgvsp: ENSP00000476506.1:p.Pro357Ala
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro357Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

7-124482966-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482966
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482966
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 120470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1058A>C
  hgvsp: ENSP00000476506.1:p.Lys353Thr
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.338A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.665A>C
  hgvsp: ENSP00000377002.1:p.Lys222Thr
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1058A>C
  hgvsp: ENSP00000476981.1:p.Lys353Thr
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1058A>C
  hgvsp: ENSP00000350249.3:p.Lys353Thr
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*155A>C
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28143
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys353Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-124482968-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482968
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482968
    reference: chr 7
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.336G>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.663G>T
  hgvsp: ENSP00000377002.1:p.Leu221Phe
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1056G>T
  hgvsp: ENSP00000350249.3:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*153G>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1056G>T
  hgvsp: ENSP00000476981.1:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1056G>T
  hgvsp: ENSP00000476506.1:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu352Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

7-124482980-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482980
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482980
    reference: chr 7
allele count: 1
allele frequency: 8.391655337931961e-6
allele num: 119166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1044A>C
  hgvsp: ENST00000607932.1:c.1044A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.651A>C
  hgvsp: ENST00000393329.1:c.651A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.324A>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1044A>C
  hgvsp: ENST00000609106.1:c.1044A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1044A>C
  hgvsp: ENST00000357628.3:c.1044A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*141A>C
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu348Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-124482984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482984
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482984
    reference: chr 7
allele count: 1
allele frequency: 8.440670526866655e-6
allele num: 118474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.647C>T
  hgvsp: ENSP00000377002.1:p.Pro216Leu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.320C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1040C>T
  hgvsp: ENSP00000350249.3:p.Pro347Leu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*137C>T
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1040C>T
  hgvsp: ENSP00000476506.1:p.Pro347Leu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1040C>T
  hgvsp: ENSP00000476981.1:p.Pro347Leu
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro347Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

7-124482986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124482986
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124482986
    reference: chr 7
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1038A>G
  hgvsp: ENST00000609106.1:c.1038A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1038A>G
  hgvsp: ENST00000357628.3:c.1038A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*135A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1038A>G
  hgvsp: ENST00000607932.1:c.1038A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.645A>G
  hgvsp: ENST00000393329.1:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.318A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16321
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41283
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr346Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-124483000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124483000
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124483000
    reference: chr 7
allele count: 1
allele frequency: 8.8073135932078e-6
allele num: 113542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1024T>C
  hgvsp: ENSP00000476981.1:p.Tyr342His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.304T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*121T>C
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1024T>C
  hgvsp: ENSP00000350249.3:p.Tyr342His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1024T>C
  hgvsp: ENSP00000476506.1:p.Tyr342His
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.631T>C
  hgvsp: ENSP00000377002.1:p.Tyr211His
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr342His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

7-124483001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124483001
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124483001
    reference: chr 7
allele count: 12
allele frequency: 1.070090957731407e-4
allele num: 112140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1023G>A
  hgvsp: ENST00000607932.1:c.1023G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.303G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1023G>A
  hgvsp: ENST00000357628.3:c.1023G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1023G>A
  hgvsp: ENST00000609106.1:c.1023G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*120G>A
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.630G>A
  hgvsp: ENST00000393329.1:c.630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24760
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln341Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

7-124483002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124483002
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124483002
    reference: chr 7
allele count: 150
allele frequency: 1.346209075244112e-3
allele num: 111424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*119A>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1022A>G
  hgvsp: ENSP00000476981.1:p.Gln341Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1022A>G
  hgvsp: ENSP00000350249.3:p.Gln341Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.629A>G
  hgvsp: ENSP00000377002.1:p.Gln210Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1022A>G
  hgvsp: ENSP00000476506.1:p.Gln341Arg
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.302A>G
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24393
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 9.75e1
  variant carriers: 145
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln341Arg
num of homozygotes: 3
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

7-124483003-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 124483003
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 124483003
    reference: chr 7
allele count: 1
allele frequency: 8.984241640163154e-6
allele num: 111306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128513
  ensembl transcript: ENST00000466483
  gene symbol: POT1
  hgvsc: ENST00000466483.1:n.301C>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476506
  ensembl transcript: ENST00000607932
  gene symbol: POT1
  hgvsc: ENST00000607932.1:c.1021C>G
  hgvsp: ENSP00000476506.1:p.Gln341Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000377002
  ensembl transcript: ENST00000393329
  gene symbol: POT1
  hgvsc: ENST00000393329.1:c.628C>G
  hgvsp: ENSP00000377002.1:p.Gln210Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476981
  ensembl transcript: ENST00000609106
  gene symbol: POT1
  hgvsc: ENST00000609106.1:c.1021C>G
  hgvsp: ENSP00000476981.1:p.Gln341Glu
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000476371
  ensembl transcript: ENST00000608057
  gene symbol: POT1
  hgvsc: ENST00000608057.1:c.*118C>G
  variant of: http://identifiers.org/hgnc/17284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128513
  ensembl protein: ENSP00000350249
  ensembl transcript: ENST00000357628
  gene symbol: POT1
  hgvsc: ENST00000357628.3:c.1021C>G
  hgvsp: ENSP00000350249.3:p.Gln341Glu
  variant of: http://identifiers.org/hgnc/17284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln341Glu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G

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

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

GenotypeQuality
all individuals: 2807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5187
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

MQ
type: SiteQuality
SIO_000300: 4.373e1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

FS
type: SiteQuality
SIO_000300: 1.5512e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.636e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.217e0

DP
type: SiteQuality
SIO_000300: 1.579065e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1496
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 3.389e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.997e1

DP
type: SiteQuality
SIO_000300: 1.579429e6

QD
type: SiteQuality
SIO_000300: 1.603e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

MQ
type: SiteQuality
SIO_000300: 5.997e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 3.389e0

DP
type: SiteQuality
SIO_000300: 1.579429e6

QD
type: SiteQuality
SIO_000300: 1.603e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.229e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e0

DP
type: SiteQuality
SIO_000300: 1.579705e6

QD
type: SiteQuality
SIO_000300: 1.606e1

FS
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7217
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 1.579823e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

FS
type: SiteQuality
SIO_000300: 1.299e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2633
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

FS
type: SiteQuality
SIO_000300: 4.223e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.57991e6

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.131e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.579968e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

South Asian
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allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

East Asian
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allele count: 57
allele frequency: 6.589595375722544e-3
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.58639e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

QD
type: SiteQuality
SIO_000300: 1.332e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.696147322510298e-3
allele num: 16508
num of homozygotes: 1

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.567e0

DP
type: SiteQuality
SIO_000300: 1.585523e6

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

FS
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2634
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GenotypeQuality
all individuals: 4
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.41e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.239e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e0

DP
type: SiteQuality
SIO_000300: 1.583598e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
all individuals: 1197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2634
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2799
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36419
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.108e0

DP
type: SiteQuality
SIO_000300: 1.583567e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.14e0

GenotypeQuality
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1455
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6733
bin: 9.75e1
variant carriers: 1616

GenotypeQuality
all individuals: 3460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6997
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 196
allele frequency: 1.187303125757209e-2
allele num: 16508
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 104
allele frequency: 1.573849878934625e-2
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.418262720061908e-3
allele num: 10338
num of homozygotes: 0

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

Latino
type: Population
allele count: 44
allele frequency: 3.800967519004838e-3
allele num: 11576
num of homozygotes: 1

Other
type: Population
allele count: 13
allele frequency: 1.431718061674009e-2
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1264
allele frequency: 1.895109298629644e-2
allele num: 66698
num of homozygotes: 21

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

FS
type: SiteQuality
SIO_000300: 1.121e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.816e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 1.734259e6

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6733
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 1.121e0

DP
type: SiteQuality
SIO_000300: 1.734259e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.816e0

QD
type: SiteQuality
SIO_000300: 1.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5946
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 35651
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variant carriers: 0

GenotypeQuality
all individuals: 2650
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 7119
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

FS
type: SiteQuality
SIO_000300: 3.421e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e0

DP
type: SiteQuality
SIO_000300: 1.625444e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 35626
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5946
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7118
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.625478e6

QD
type: SiteQuality
SIO_000300: 7.62e0

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e0

MQ
type: SiteQuality
SIO_000300: 3.731e1

VQSLOD
type: SiteQuality
SIO_000300: -5.815e0

FS
type: SiteQuality
SIO_000300: 1.511e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
all individuals: 2771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7112
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5954
bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 1.625233e6

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

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

GenotypeQuality
all individuals: 1214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5950
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35528
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.67e-1

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.624809e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
all individuals: 2770
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5952
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

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

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 7108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

DP
type: SiteQuality
SIO_000300: 1.624709e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 3.873e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 3528
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5951
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.044e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.624504e6

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.056e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 8.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 2771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2649
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5955
bin: 9.75e1
variant carriers: 2

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.262e-1

DP
type: SiteQuality
SIO_000300: 1.624204e6

QD
type: SiteQuality
SIO_000300: 1.647e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
all individuals: 1215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5961
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 35281
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.031405359524675e-4
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.255e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 1.623288e6

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5962
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7095
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.143e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.622901e6

QD
type: SiteQuality
SIO_000300: 1.55e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.034e0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7074
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

DP
type: SiteQuality
SIO_000300: 1.621705e6

QD
type: SiteQuality
SIO_000300: 1.701e1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
all individuals: 892
bin: 8.25e1
variant carriers: 89

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 28

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2399
bin: 6.75e1
variant carriers: 50

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 436
bin: 8.75e1
variant carriers: 68

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 918
bin: 7.25e1
variant carriers: 44

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 117

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 33

South Asian
type: Population
allele count: 6328
allele frequency: 3.846340870410893e-1
allele num: 16452
num of homozygotes: 1268

African
type: Population
allele count: 3620
allele frequency: 3.560889238638599e-1
allele num: 10166
num of homozygotes: 646

European (Finnish)
type: Population
allele count: 3274
allele frequency: 4.956100514683621e-1
allele num: 6606
num of homozygotes: 781

Other
type: Population
allele count: 407
allele frequency: 4.482378854625551e-1
allele num: 908
num of homozygotes: 98

East Asian
type: Population
allele count: 4345
allele frequency: 5.047630111524164e-1
allele num: 8608
num of homozygotes: 1095

European (Non-Finnish)
type: Population
allele count: 26717
allele frequency: 4.015058158756875e-1
allele num: 66542
num of homozygotes: 5349

Latino
type: Population
allele count: 5020
allele frequency: 4.343311991694065e-1
allele num: 11558
num of homozygotes: 1074

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.278e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

DP
type: SiteQuality
SIO_000300: 3.688005e6

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3414
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.240512e6

QD
type: SiteQuality
SIO_000300: 1.217e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 3800
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 205
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17804
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.812e1

DP
type: SiteQuality
SIO_000300: 2.22974e6

FS
type: SiteQuality
SIO_000300: 1.892e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 17804
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.125199068969742e-5
allele num: 16326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 1.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 2.220391e6

QD
type: SiteQuality
SIO_000300: 1.589e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014499743767522e-5
allele num: 66346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.491e1

FS
type: SiteQuality
SIO_000300: 6.578e0

DP
type: SiteQuality
SIO_000300: 2.212027e6

GenotypeQuality
all individuals: 799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1312
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17801
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2877
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -6.342e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 2.207731e6

QD
type: SiteQuality
SIO_000300: 7.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.921e0

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17801
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1668
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5427
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.840490797546012e-4
allele num: 16300
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.798e0

FS
type: SiteQuality
SIO_000300: 2.968e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 2.204636e6

MQ
type: SiteQuality
SIO_000300: 5.995e1

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 798
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.199213e6

MQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

QD
type: SiteQuality
SIO_000300: 2.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 1668
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
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variant carriers: 0

GenotypeQuality
all individuals: 18222
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.003814495081309e-4
allele num: 9962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.192463e6

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.953e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.462e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17794
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16159
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021969719863407e-5
allele num: 66182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.316e0

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 2.174053e6

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.811e0

GenotypeQuality
all individuals: 1221
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1960
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variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
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variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4792
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.011531458628363e-4
allele num: 9886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Other
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: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.158241e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 1793
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.548762736535663e-5
allele num: 65952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.017e0

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.155747e6

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

GenotypeQuality
all individuals: 693
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 1.681007e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.587e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.301e0

QD
type: SiteQuality
SIO_000300: 1.114e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1895
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GenotypeQuality
all individuals: 1799
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.234263144902493e-4
allele num: 16204
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.042e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.24e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 1.689446e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.539e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 2.2e1

MQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 40
bin: 7.5e0
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GenotypeQuality
all individuals: 301
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GenotypeQuality
all individuals: 782
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.950838860710105e-4
allele num: 10252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.693651e6

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42731
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variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1907
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GenotypeQuality
all individuals: 299
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GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 7.084e0

VQSLOD
type: SiteQuality
SIO_000300: -5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

DP
type: SiteQuality
SIO_000300: 1.702498e6

GenotypeQuality
all individuals: 1907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.155361319709468e-5
allele num: 16246
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.702498e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

FS
type: SiteQuality
SIO_000300: 7.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.024e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.231830500123183e-4
allele num: 16236
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509798592867711e-5
allele num: 66234
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.704059e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.984e0

FS
type: SiteQuality
SIO_000300: 1.871e0

QD
type: SiteQuality
SIO_000300: 1.093e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017592564651921e-5
allele num: 66278
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.705866e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 1808
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: -7.674e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 1.712562e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.895e0

FS
type: SiteQuality
SIO_000300: 3.0324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.741e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 1810
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 780
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GenotypeQuality
all individuals: 2956
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.805e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e0

FS
type: SiteQuality
SIO_000300: 9.92e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

DP
type: SiteQuality
SIO_000300: 1.712995e6

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 6.921e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.407e0

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

QD
type: SiteQuality
SIO_000300: 4.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 1.714163e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.079e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473026163463765e-4
allele num: 8638
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.721749e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 48

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.447936660268714e-4
allele num: 66688
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

Latino
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allele frequency: 3.459010722933241e-4
allele num: 11564
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8642
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.724273e6

FS
type: SiteQuality
SIO_000300: 5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1827
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GenotypeQuality
all individuals: 44163
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.21e-1

ClippingRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.721423e6

GenotypeQuality
all individuals: 1942
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variant carriers: 0

GenotypeQuality
all individuals: 8361
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 262
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variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.156e1

DP
type: SiteQuality
SIO_000300: 1.721499e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.892e0

FS
type: SiteQuality
SIO_000300: 1.025e0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 4.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.721196e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.498e-1

MQ
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DP
type: SiteQuality
SIO_000300: 1.721087e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.891e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.427e1

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.983e0

DP
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SIO_000300: 1.721028e6

MQ
type: SiteQuality
SIO_000300: 5.861e1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.720442e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

FS
type: SiteQuality
SIO_000300: 2.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.720435e6

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.277e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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QD
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.505253677574302e-5
allele num: 66620
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 2.29e0

InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.215953307392996e-4
allele num: 16448
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East Asian
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allele frequency: 2.549837737598517e-3
allele num: 8628
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.718971e6

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43835
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.467e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 5.901e0

DP
type: SiteQuality
SIO_000300: 1.717613e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.356e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.71676e6

MQRankSum
type: SiteQuality
SIO_000300: -2.017e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052473312283867e-4
allele num: 66510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.716993e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

FS
type: SiteQuality
SIO_000300: 1.166e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 1.549e1

MQ
type: SiteQuality
SIO_000300: 5.997e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

DP
type: SiteQuality
SIO_000300: 1.715205e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 4.041e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: -2.138e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.234e0

GenotypeQuality
all individuals: 438
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 8257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.235e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.234e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.715205e6

FS
type: SiteQuality
SIO_000300: 4.041e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.138e-1

GenotypeQuality
all individuals: 1877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 748
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.794e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.708129e6

MQRankSum
type: SiteQuality
SIO_000300: -2.814e0

QD
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -3.662e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514004542013626e-5
allele num: 66050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.943e0

MQ
type: SiteQuality
SIO_000300: 5.813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 1.704938e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: -2.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.214e0

VQSLOD
type: SiteQuality
SIO_000300: -2.107e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65414
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.215040397762585e-5
allele num: 16090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.58e-1

QD
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SIO_000300: 1.55e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.68624e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538603563405853e-5
allele num: 64994
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.675755e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15860
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64788
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.6689e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.849e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.806e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e0

QD
type: SiteQuality
SIO_000300: 8.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6788
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 2838
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GenotypeQuality
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GenotypeQuality
all individuals: 7242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14970
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.212415130940834e-4
allele num: 8248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.902e-1

FS
type: SiteQuality
SIO_000300: 6.743e0

DP
type: SiteQuality
SIO_000300: 1.595621e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.095e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.67e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6970
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.213346814964611e-3
allele num: 9890
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

FS
type: SiteQuality
SIO_000300: 6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 1.572957e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.612e0

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34878
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 3.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.206407659731172e-5
allele num: 10862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

South Asian
type: Population
allele count: 149
allele frequency: 1.020827624006577e-2
allele num: 14596
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60756
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.771e0

DP
type: SiteQuality
SIO_000300: 1.560089e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.215e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.016260162601626e-4
allele num: 9840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0