2-47600733-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600733
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600733
    reference: chr 2
allele count: 1
allele frequency: 9.213193292795283e-6
allele num: 108540
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.184+24T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.412+24T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.268+24T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.239T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.268+24T>A
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

2-47600736-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600736
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600736
    reference: chr 2
allele count: 33
allele frequency: 3.060145774216881e-4
allele num: 107838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.242A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.412+27A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.268+27A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.268+27A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.184+27A>G
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19292
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 295
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14947
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-47600745-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600745
    reference: chr 2
allele count: 1
allele frequency: 9.594534952890833e-6
allele num: 104226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.268+36T>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.268+36T>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.412+36T>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.251T>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.184+36T>G
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1901
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 469
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genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-47600750-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600750
    reference: chr 2
allele count: 2
allele frequency: 1.984599507819322e-5
allele num: 100776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.256C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.184+41C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.412+41C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.268+41C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.268+41C>G
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18346
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-47600755-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600755
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600754
    reference: chr 2
allele count: 2
allele frequency: 1.994813484939158e-5
allele num: 100260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.412+47delA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.268+47delA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.262delA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.268+47delA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.184+47delA
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: TA
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-47600756-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600756
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600756
    reference: chr 2
allele count: 1
allele frequency: 1.004823151125402e-5
allele num: 99520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.268+47A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.412+47A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.262A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.184+47A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.268+47A>C
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12522
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-47600757-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600757
    reference: chr 2
allele count: 1
allele frequency: 1.006339941632283e-5
allele num: 99370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.268+48C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.268+48C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.412+48C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.263C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.184+48C>A
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
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genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 6052
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genotype quality: GenotypeQuality
  all individuals: 11857
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-47600761-TTTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600757
    reference: chr 2
allele count: 1
allele frequency: 1.017087062652563e-5
allele num: 98320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.268+55_268+58delAATT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.184+55_184+58delAATT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.412+55_412+58delAATT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.270_273delAATT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.268+55_268+58delAATT
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 775
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8026
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: TTTAA
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-47600897-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600897
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 119734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-50A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.403A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-50A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-50A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-50A>C
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-47600899-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600899
    reference: chr 2
allele count: 1
allele frequency: 8.349057391420508e-6
allele num: 119774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.405T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-48T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-48T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-48T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-48T>A
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-47600901-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600901
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600901
    reference: chr 2
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-46A>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-46A>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-46A>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.407A>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-46A>T
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-47600905-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600905
    reference: chr 2
allele count: 1
allele frequency: 8.343763037129745e-6
allele num: 119850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-42A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-42A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-42A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.411A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-42A>C
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

2-47600909-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600909
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600909
    reference: chr 2
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.415A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-38A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-38A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-38A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-38A>G
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-47600921-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600921
    reference: chr 2
allele count: 3
allele frequency: 2.498126405196103e-5
allele num: 120090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.427G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-26G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.8G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-26G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-26G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-26G>C
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-47600926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600926
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600926
    reference: chr 2
allele count: 3
allele frequency: 2.495383540450167e-5
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.432G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-21G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-21G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.13G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-21G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-21G>A
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15097
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-47600926-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600926
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600926
    reference: chr 2
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-21G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-21G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.432G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.13G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-21G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-21G>C
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-47600932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600932
    reference: chr 2
allele count: 6
allele frequency: 4.984216647283602e-5
allele num: 120380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.438A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-15A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-15A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-15A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.19A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-15A>G
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15112
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-47600938-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600938
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600939
    reference: chr 2
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185-4dupT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.30dupT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269-4dupT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.449dupT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413-4dupT
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269-4dupT
  variant of: http://identifiers.org/hgnc/11529
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17670
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15113
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-47600947-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600947
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600947
    reference: chr 2
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.413T>G
  hgvsp: ENSP00000389028.1:p.Leu138Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.269T>G
  hgvsp: ENSP00000410675.1:p.Leu90Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.453T>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.185T>G
  hgvsp: ENSP00000263735.4:p.Leu62Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.269T>G
  hgvsp: ENSP00000385476.1:p.Leu90Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.34T>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu62Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-47600953-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600953
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600953
    reference: chr 2
allele count: 171
allele frequency: 1.44306233016591e-3
allele num: 118498
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.191C>G
  hgvsp: ENSP00000263735.4:p.Ala64Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.40C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.459C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.275C>G
  hgvsp: ENSP00000385476.1:p.Ala92Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.419C>G
  hgvsp: ENSP00000389028.1:p.Ala140Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.275C>G
  hgvsp: ENSP00000410675.1:p.Ala92Gly
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 14869
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17267
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 20893
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 9
hgvs: p.Ala64Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-47600955-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600955
    reference: chr 2
allele count: 5
allele frequency: 4.140238146498186e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.461A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.193A>C
  hgvsp: ENSP00000263735.4:p.Lys65Gln
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.42A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.421A>C
  hgvsp: ENSP00000389028.1:p.Lys141Gln
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.277A>C
  hgvsp: ENSP00000410675.1:p.Lys93Gln
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.277A>C
  hgvsp: ENSP00000385476.1:p.Lys93Gln
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys65Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-47600967-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600967
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600967
    reference: chr 2
allele count: 2
allele frequency: 1.652127940787734e-5
allele num: 121056
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.205A>G
  hgvsp: ENSP00000263735.4:p.Met69Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.289A>G
  hgvsp: ENSP00000385476.1:p.Met97Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.54A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.433A>G
  hgvsp: ENSP00000389028.1:p.Met145Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.289A>G
  hgvsp: ENSP00000410675.1:p.Met97Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.473A>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met69Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-47600974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600974
    reference: chr 2
allele count: 2
allele frequency: 1.651418568550385e-5
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.296C>T
  hgvsp: ENSP00000385476.1:p.Ala99Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.61C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.440C>T
  hgvsp: ENSP00000389028.1:p.Ala147Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.480C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.296C>T
  hgvsp: ENSP00000410675.1:p.Ala99Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.212C>T
  hgvsp: ENSP00000263735.4:p.Ala71Val
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7656
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala71Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47600983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600983
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600983
    reference: chr 2
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.305A>G
  hgvsp: ENSP00000385476.1:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.305A>G
  hgvsp: ENSP00000410675.1:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.449A>G
  hgvsp: ENSP00000389028.1:p.Asn150Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.221A>G
  hgvsp: ENSP00000263735.4:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.70A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.489A>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7676
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn74Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-47600986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600986
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600986
    reference: chr 2
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.308G>A
  hgvsp: ENSP00000385476.1:p.Gly103Asp
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.73G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.224G>A
  hgvsp: ENSP00000263735.4:p.Gly75Asp
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.452G>A
  hgvsp: ENSP00000389028.1:p.Gly151Asp
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.308G>A
  hgvsp: ENSP00000410675.1:p.Gly103Asp
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.492G>A
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14944
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly75Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-47600994-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600994
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600994
    reference: chr 2
allele count: 6
allele frequency: 4.948045522018802e-5
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.232C>G
  hgvsp: ENSP00000263735.4:p.Leu78Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.316C>G
  hgvsp: ENSP00000385476.1:p.Leu106Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.81C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.316C>G
  hgvsp: ENSP00000410675.1:p.Leu106Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.500C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.460C>G
  hgvsp: ENSP00000389028.1:p.Leu154Val
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu78Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-47600995-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600995
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600995
    reference: chr 2
allele count: 7
allele frequency: 5.772338951743246e-5
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.461T>C
  hgvsp: ENSP00000389028.1:p.Leu154Pro
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.233T>C
  hgvsp: ENSP00000263735.4:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.501T>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.82T>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.317T>C
  hgvsp: ENSP00000410675.1:p.Leu106Pro
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.317T>C
  hgvsp: ENSP00000385476.1:p.Leu106Pro
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu78Pro
num of homozygotes: 1
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-47600995-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600995
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600995
    reference: chr 2
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.501T>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.317T>G
  hgvsp: ENSP00000385476.1:p.Leu106Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.82T>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.233T>G
  hgvsp: ENSP00000263735.4:p.Leu78Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.317T>G
  hgvsp: ENSP00000410675.1:p.Leu106Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.461T>G
  hgvsp: ENSP00000389028.1:p.Leu154Arg
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu78Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

2-47600997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47600997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47600997
    reference: chr 2
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.235G>A
  hgvsp: ENSP00000263735.4:p.Gly79Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.463G>A
  hgvsp: ENSP00000389028.1:p.Gly155Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.319G>A
  hgvsp: ENSP00000385476.1:p.Gly107Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.503G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.319G>A
  hgvsp: ENSP00000410675.1:p.Gly107Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.84G>A
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14957
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly79Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-47601000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601000
    reference: chr 2
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.238A>G
  hgvsp: ENSP00000263735.4:p.Arg80Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.466A>G
  hgvsp: ENSP00000389028.1:p.Arg156Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.87A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.322A>G
  hgvsp: ENSP00000385476.1:p.Arg108Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.322A>G
  hgvsp: ENSP00000410675.1:p.Arg108Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.506A>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4596
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg80Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-47601003-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601003
    reference: chr 2
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.469A>C
  hgvsp: ENST00000419334.1:c.469A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.325A>C
  hgvsp: ENST00000456133.1:c.325A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.509A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.241A>C
  hgvsp: ENST00000263735.4:c.241A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.90A>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.325A>C
  hgvsp: ENST00000405271.1:c.325A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21396
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg81Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-47601006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601006
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601006
    reference: chr 2
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.93G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.328G>A
  hgvsp: ENSP00000385476.1:p.Ala110Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.512G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.328G>A
  hgvsp: ENSP00000410675.1:p.Ala110Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.472G>A
  hgvsp: ENSP00000389028.1:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.244G>A
  hgvsp: ENSP00000263735.4:p.Ala82Thr
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14971
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala82Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-47601008-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601008
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.474A>G
  hgvsp: ENST00000419334.1:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.246A>G
  hgvsp: ENST00000263735.4:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.330A>G
  hgvsp: ENST00000456133.1:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.514A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.95A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.330A>G
  hgvsp: ENST00000405271.1:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala82Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-47601012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601012
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601012
    reference: chr 2
allele count: 6
allele frequency: 4.945109286915241e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.250C>T
  hgvsp: ENSP00000263735.4:p.Pro84Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.518C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.334C>T
  hgvsp: ENSP00000385476.1:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.99C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.334C>T
  hgvsp: ENSP00000410675.1:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.478C>T
  hgvsp: ENSP00000389028.1:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14985
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro84Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-47601013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601013
    reference: chr 2
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.335C>G
  hgvsp: ENSP00000385476.1:p.Pro112Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.519C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.335C>G
  hgvsp: ENSP00000410675.1:p.Pro112Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.479C>G
  hgvsp: ENSP00000389028.1:p.Pro160Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.251C>G
  hgvsp: ENSP00000263735.4:p.Pro84Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.100C>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro84Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-47601017-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601017
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601017
    reference: chr 2
allele count: 11
allele frequency: 9.064539521392314e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.483A>T
  hgvsp: ENSP00000389028.1:p.Glu161Asp
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.255A>T
  hgvsp: ENSP00000263735.4:p.Glu85Asp
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.339A>T
  hgvsp: ENSP00000385476.1:p.Glu113Asp
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.339A>T
  hgvsp: ENSP00000410675.1:p.Glu113Asp
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.104A>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.523A>T
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu85Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

2-47601021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601021
    reference: chr 2
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.343G>A
  hgvsp: ENSP00000410675.1:p.Ala115Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.343G>A
  hgvsp: ENSP00000385476.1:p.Ala115Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.487G>A
  hgvsp: ENSP00000389028.1:p.Ala163Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.259G>A
  hgvsp: ENSP00000263735.4:p.Ala87Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.108G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.527G>A
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala87Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-47601022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601022
    reference: chr 2
allele count: 10
allele frequency: 8.241169586787757e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.260C>T
  hgvsp: ENSP00000263735.4:p.Ala87Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.488C>T
  hgvsp: ENSP00000389028.1:p.Ala163Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.344C>T
  hgvsp: ENSP00000410675.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.528C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.344C>T
  hgvsp: ENSP00000385476.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.109C>T
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala87Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-47601023-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601023
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.529C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.261C>G
  hgvsp: ENST00000263735.4:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.489C>G
  hgvsp: ENST00000419334.1:c.489C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.345C>G
  hgvsp: ENST00000456133.1:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.345C>G
  hgvsp: ENST00000405271.1:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.110C>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15009
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala87Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-47601029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601029
    reference: chr 2
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.351G>A
  hgvsp: ENST00000456133.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.351G>A
  hgvsp: ENST00000405271.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.495G>A
  hgvsp: ENST00000419334.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.116G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.267G>A
  hgvsp: ENST00000263735.4:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.535G>A
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15264
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln89Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-47601029-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601029
    reference: chr 2
allele count: 313
allele frequency: 2.579060991084524e-3
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.116G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.351G>C
  hgvsp: ENSP00000385476.1:p.Gln117His
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.535G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.495G>C
  hgvsp: ENSP00000389028.1:p.Gln165His
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.351G>C
  hgvsp: ENSP00000410675.1:p.Gln117His
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.267G>C
  hgvsp: ENSP00000263735.4:p.Gln89His
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 6.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 16459
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15264
  bin: 9.75e1
  variant carriers: 311
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln89His
num of homozygotes: 2
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-47601031-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601031
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601031
    reference: chr 2
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.537A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.353A>G
  hgvsp: ENSP00000385476.1:p.Asn118Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.118A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.497A>G
  hgvsp: ENSP00000389028.1:p.Asn166Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.353A>G
  hgvsp: ENSP00000410675.1:p.Asn118Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.269A>G
  hgvsp: ENSP00000263735.4:p.Asn90Ser
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn90Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-47601034-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601034
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.540A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.121A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.356A>G
  hgvsp: ENSP00000385476.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.500A>G
  hgvsp: ENSP00000389028.1:p.Asn167Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.272A>G
  hgvsp: ENSP00000263735.4:p.Asn91Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.356A>G
  hgvsp: ENSP00000410675.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn91Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-47601044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601044
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601044
    reference: chr 2
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.550T>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.510T>C
  hgvsp: ENST00000419334.1:c.510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.366T>C
  hgvsp: ENST00000405271.1:c.366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.282T>C
  hgvsp: ENST00000263735.4:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.366T>C
  hgvsp: ENST00000456133.1:c.366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.131T>C
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15107
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu94Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-47601049-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601049
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.136A>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.371A>T
  hgvsp: ENSP00000410675.1:p.Asp124Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.287A>T
  hgvsp: ENSP00000263735.4:p.Asp96Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.371A>T
  hgvsp: ENSP00000385476.1:p.Asp124Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.515A>T
  hgvsp: ENSP00000389028.1:p.Asp172Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.555A>T
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp96Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-47601055-A-ACTGCTCTCATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601066
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: ACTGCTCTCATC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsp: ENSP00000389028.1:p.Asp176SerfsTer24
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsp: ENSP00000385476.1:p.Asp128SerfsTer24
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsp: ENSP00000410675.1:p.Asp128SerfsTer24
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsp: ENSP00000263735.4:p.Asp100SerfsTer24
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 15609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp100SerfsTer24
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-47601056-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601056
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.294C>G
  hgvsp: ENSP00000263735.4:p.Asp98Glu
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.522C>G
  hgvsp: ENSP00000389028.1:p.Asp174Glu
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.562C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.378C>G
  hgvsp: ENSP00000410675.1:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.378C>G
  hgvsp: ENSP00000385476.1:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.143C>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp98Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-47601059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601059
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.525C>T
  hgvsp: ENST00000419334.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.146C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.297C>T
  hgvsp: ENST00000263735.4:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.381C>T
  hgvsp: ENST00000405271.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.565C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.381C>T
  hgvsp: ENST00000456133.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys99Cys
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-47601060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601060
    reference: chr 2
allele count: 11
allele frequency: 9.061254077564335e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.382G>A
  hgvsp: ENSP00000385476.1:p.Asp128Asn
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.147G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.298G>A
  hgvsp: ENSP00000263735.4:p.Asp100Asn
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.566G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.382G>A
  hgvsp: ENSP00000410675.1:p.Asp128Asn
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.526G>A
  hgvsp: ENSP00000389028.1:p.Asp176Asn
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp100Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-47601061-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601061
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601061
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.383A>G
  hgvsp: ENSP00000385476.1:p.Asp128Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.567A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.148A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.299A>G
  hgvsp: ENSP00000263735.4:p.Asp100Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.527A>G
  hgvsp: ENSP00000389028.1:p.Asp176Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.383A>G
  hgvsp: ENSP00000410675.1:p.Asp128Gly
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15123
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp100Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-47601061-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601061
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601061
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.567A>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.383A>T
  hgvsp: ENSP00000385476.1:p.Asp128Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.527A>T
  hgvsp: ENSP00000389028.1:p.Asp176Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.383A>T
  hgvsp: ENSP00000410675.1:p.Asp128Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.299A>T
  hgvsp: ENSP00000263735.4:p.Asp100Val
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.148A>T
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15123
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp100Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-47601062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601062
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601062
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.300T>C
  hgvsp: ENST00000263735.4:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.568T>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.149T>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.384T>C
  hgvsp: ENST00000405271.1:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.528T>C
  hgvsp: ENST00000419334.1:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.384T>C
  hgvsp: ENST00000456133.1:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15123
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp100Asp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-47601065-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601064
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.388delA
  hgvsp: ENSP00000385476.1:p.Ser130AlafsTer18
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.532delA
  hgvsp: ENSP00000389028.1:p.Ser178AlafsTer18
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.572delA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.153delA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.388delA
  hgvsp: ENSP00000410675.1:p.Ser130AlafsTer18
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.304delA
  hgvsp: ENSP00000263735.4:p.Ser102AlafsTer18
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser102AlafsTer18
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: GA
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-47601066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601066
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601066
    reference: chr 2
allele count: 18
allele frequency: 1.4827506672378e-4
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.304A>G
  hgvsp: ENSP00000263735.4:p.Ser102Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.153A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.532A>G
  hgvsp: ENSP00000389028.1:p.Ser178Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.388A>G
  hgvsp: ENSP00000385476.1:p.Ser130Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.388A>G
  hgvsp: ENSP00000410675.1:p.Ser130Gly
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.572A>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15135
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser102Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-47601074-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601074
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.396C>A
  hgvsp: ENST00000405271.1:c.396C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.580C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.161C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.540C>A
  hgvsp: ENST00000419334.1:c.540C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.396C>A
  hgvsp: ENST00000456133.1:c.396C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.312C>A
  hgvsp: ENST00000263735.4:c.312C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7794
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu104Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-47601085-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601085
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601085
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.323A>G
  hgvsp: ENSP00000263735.4:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.407A>G
  hgvsp: ENSP00000410675.1:p.Lys136Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.172A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.551A>G
  hgvsp: ENSP00000389028.1:p.Lys184Arg
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.591A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.407A>G
  hgvsp: ENSP00000385476.1:p.Lys136Arg
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys108Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-47601094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601094
    reference: chr 2
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.181A>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.332A>G
  hgvsp: ENSP00000263735.4:p.Asn111Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.560A>G
  hgvsp: ENSP00000389028.1:p.Asn187Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.416A>G
  hgvsp: ENSP00000410675.1:p.Asn139Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.416A>G
  hgvsp: ENSP00000385476.1:p.Asn139Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.600A>G
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15165
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn111Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-47601095-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601095
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.182C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.417C>A
  hgvsp: ENSP00000385476.1:p.Asn139Lys
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.601C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.561C>A
  hgvsp: ENSP00000389028.1:p.Asn187Lys
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.417C>A
  hgvsp: ENSP00000410675.1:p.Asn139Lys
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.333C>A
  hgvsp: ENSP00000263735.4:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn111Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

2-47601095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601095
    reference: chr 2
allele count: 8
allele frequency: 6.589894396942289e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.561C>T
  hgvsp: ENST00000419334.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.417C>T
  hgvsp: ENST00000405271.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.417C>T
  hgvsp: ENST00000456133.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.182C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.601C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.333C>T
  hgvsp: ENST00000263735.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn111Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47601096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601096
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601096
    reference: chr 2
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.602G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.562G>A
  hgvsp: ENSP00000389028.1:p.Gly188Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.334G>A
  hgvsp: ENSP00000263735.4:p.Gly112Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.418G>A
  hgvsp: ENSP00000410675.1:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.183G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.418G>A
  hgvsp: ENSP00000385476.1:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly112Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-47601100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601100
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.606C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.422C>T
  hgvsp: ENSP00000385476.1:p.Thr141Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.422C>T
  hgvsp: ENSP00000410675.1:p.Thr141Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.187C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.566C>T
  hgvsp: ENSP00000389028.1:p.Thr189Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.338C>T
  hgvsp: ENSP00000263735.4:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr113Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-47601104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601104
    reference: chr 2
allele count: 10
allele frequency: 8.237775141689732e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.426C>T
  hgvsp: ENST00000405271.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.191C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.570C>T
  hgvsp: ENST00000419334.1:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.610C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.426C>T
  hgvsp: ENST00000456133.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.342C>T
  hgvsp: ENST00000263735.4:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15196
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 7789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser114Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-47601106-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601106
    reference: chr 2
allele count: 63076
allele frequency: 5.197857437165224e-1
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.428T>C
  hgvsp: ENSP00000385476.1:p.Met143Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.193T>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.612T>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.344T>C
  hgvsp: ENSP00000263735.4:p.Met115Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.572T>C
  hgvsp: ENSP00000389028.1:p.Met191Thr
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.428T>C
  hgvsp: ENSP00000410675.1:p.Met143Thr
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 2411
genotype depth: GenotypeDepth
  all individuals: 12530
  bin: 9.75e1
  variant carriers: 12458
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 2.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 7.25e1
  variant carriers: 3610
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 1334
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.75e1
  variant carriers: 1927
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 3.25e1
  variant carriers: 515
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 9.25e1
  variant carriers: 2331
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 7.75e1
  variant carriers: 3548
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 6.25e1
  variant carriers: 3473
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 8.25e1
  variant carriers: 3111
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 2.75e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 8.75e1
  variant carriers: 2750
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 3013
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 865
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 6.75e1
  variant carriers: 3683
genotype quality: GenotypeQuality
  all individuals: 46797
  bin: 9.75e1
  variant carriers: 45009
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 9727
  bin: 6.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 23
hgvs: p.Met115Thr
num of homozygotes: 17704
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-47601107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601107
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601107
    reference: chr 2
allele count: 123
allele frequency: 1.013463408203286e-3
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.345G>A
  hgvsp: ENSP00000263735.4:p.Met115Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.429G>A
  hgvsp: ENSP00000385476.1:p.Met143Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.429G>A
  hgvsp: ENSP00000410675.1:p.Met143Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.194G>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.573G>A
  hgvsp: ENSP00000389028.1:p.Met191Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.613G>A
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20910
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met115Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

2-47601107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601107
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601107
    reference: chr 2
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.429G>C
  hgvsp: ENSP00000385476.1:p.Met143Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.429G>C
  hgvsp: ENSP00000410675.1:p.Met143Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.613G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.194G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.573G>C
  hgvsp: ENSP00000389028.1:p.Met191Ile
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.345G>C
  hgvsp: ENSP00000263735.4:p.Met115Ile
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met115Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-47601109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601109
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601109
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.347G>C
  hgvsp: ENSP00000263735.4:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.615G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.431G>C
  hgvsp: ENSP00000410675.1:p.Cys144Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.575G>C
  hgvsp: ENSP00000389028.1:p.Cys192Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.196G>C
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.431G>C
  hgvsp: ENSP00000385476.1:p.Cys144Ser
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys116Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-47601111-T-TCTTTAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601117
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: TCTTTAA
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.577_578insCTTTAA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.433_434insCTTTAA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.617_618insCTTTAA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.349_350insCTTTAA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.433_434insCTTTAA
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.198_199insCTTTAA
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: protein altering
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp117delinsSerLeuArg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

2-47601113-G-GCCAAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601113
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601119
    reference: chr 2
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: GCCAAGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.435_436insCCAAGC
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.435_436insCCAAGC
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.200_201insCCAAGC
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.619_620insCCAAGC
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.579_580insCCAAGC
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.351_352insCCAAGC
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp117_Cys118insProSer
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47601114-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601114
    reference: chr 2
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.352T>A
  hgvsp: ENSP00000263735.4:p.Cys118Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.580T>A
  hgvsp: ENSP00000389028.1:p.Cys194Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.436T>A
  hgvsp: ENSP00000410675.1:p.Cys146Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.620T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.201T>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.436T>A
  hgvsp: ENSP00000385476.1:p.Cys146Ser
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6917
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys118Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-47601122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601122
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601122
    reference: chr 2
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.360C>T
  hgvsp: ENST00000263735.4:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000389028
  ensembl transcript: ENST00000419334
  gene symbol: EPCAM
  hgvsc: ENST00000419334.1:c.588C>T
  hgvsp: ENST00000419334.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.444C>T
  hgvsp: ENST00000405271.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.209C>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.444C>T
  hgvsp: ENST00000456133.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.628C>T
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn120Asn
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-47601149-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601149
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601149
    reference: chr 2
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.471G>T
  hgvsp: ENSP00000385476.1:p.Lys157Asn
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.387G>T
  hgvsp: ENSP00000263735.4:p.Lys129Asn
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.655G>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.236G>T
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.471G>T
  hgvsp: ENSP00000410675.1:p.Lys157Asn
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys129Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-47601154-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601154
    reference: chr 2
allele count: 5
allele frequency: 4.127864738128261e-5
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.476C>A
  hgvsp: ENSP00000385476.1:p.Thr159Asn
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.476C>A
  hgvsp: ENSP00000410675.1:p.Thr159Asn
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.660C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.241C>A
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.392C>A
  hgvsp: ENSP00000263735.4:p.Thr131Asn
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr131Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

2-47601154-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47601154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47601154
    reference: chr 2
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000385476
  ensembl transcript: ENST00000405271
  gene symbol: EPCAM
  hgvsc: ENST00000405271.1:c.476C>G
  hgvsp: ENSP00000385476.1:p.Thr159Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000410675
  ensembl transcript: ENST00000456133
  gene symbol: EPCAM
  hgvsc: ENST00000456133.1:c.476C>G
  hgvsp: ENSP00000410675.1:p.Thr159Ser
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000490733
  gene symbol: EPCAM
  hgvsc: ENST00000490733.1:n.241C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119888
  ensembl transcript: ENST00000474691
  gene symbol: EPCAM
  hgvsc: ENST00000474691.1:n.660C>G
  variant of: http://identifiers.org/hgnc/11529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119888
  ensembl protein: ENSP00000263735
  ensembl transcript: ENST00000263735
  gene symbol: EPCAM
  hgvsc: ENST00000263735.4:c.392C>G
  hgvsp: ENSP00000263735.4:p.Thr131Ser
  variant of: http://identifiers.org/hgnc/11529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17366
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr131Ser
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4684
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 323
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.311303435615001e-4
allele num: 7626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.157e0

QD
type: SiteQuality
SIO_000300: 1.858e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 1.33091e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 3.979e0

MQ
type: SiteQuality
SIO_000300: 5.695e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 1143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4713
bin: 9.75e1
variant carriers: 33

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58312
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 3.351487222454964e-3
allele num: 9548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.502e1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.304817e6

FS
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 1980
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4688
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.785076758300607e-5
allele num: 56020
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 14802
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7164
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6118
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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QD
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MQ
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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SIO_000300: 1.245972e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

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
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allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 2.094679514034353e-4
allele num: 9548
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.729951510630362e-5
allele num: 53620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6768
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

GenotypeQuality
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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: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14444
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.879769916162262e-5
allele num: 53198
num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.222106e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6680
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.110864252388358e-4
allele num: 9002
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53098
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

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

FS
type: SiteQuality
SIO_000300: 2.269e0

DP
type: SiteQuality
SIO_000300: 1.221744e6

VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.214e1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.905633051299642e-5
allele num: 52476
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

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

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.658e1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.045e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11486
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 16438
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DP
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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FS
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
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QD
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VQSLOD
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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allele num: 66092
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Other
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66214
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South Asian
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Other
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African
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European (Finnish)
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Latino
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East Asian
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.064141e6

FS
type: SiteQuality
SIO_000300: 6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

GenotypeQuality
all individuals: 4257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.029220779220779e-4
allele num: 9856
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.715e0

QD
type: SiteQuality
SIO_000300: 9.98e0

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.2718e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

DP
type: SiteQuality
SIO_000300: 2.072416e6

GenotypeQuality
all individuals: 20924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.2718e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.715e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

DP
type: SiteQuality
SIO_000300: 2.072416e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4311
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.529440110833359e-5
allele num: 66406
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: 8592
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.326e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.77e-1

DP
type: SiteQuality
SIO_000300: 2.080253e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

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

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.011736139214893e-4
allele num: 9884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.61e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 3.083e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.068e0

DP
type: SiteQuality
SIO_000300: 2.085118e6

GenotypeQuality
all individuals: 21218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1852
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4376
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.141e0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

DP
type: SiteQuality
SIO_000300: 2.095953e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.041e1

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1805
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3372
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 7376
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 14080
bin: 9.75e1
variant carriers: 53

GenotypeQuality
all individuals: 2257
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3492
bin: 8.25e1
variant carriers: 5

Other
type: Population
allele count: 2
allele frequency: 2.288329519450801e-3
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 2.849905003166561e-3
allele num: 9474
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 37
allele frequency: 5.863708399366086e-3
allele num: 6310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 97
allele frequency: 1.485679277071527e-3
allele num: 65290
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.824790307548928e-4
allele num: 8584
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 1.31421e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 2.102784e6

VQSLOD
type: SiteQuality
SIO_000300: -8.338e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.068e0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14892
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1874
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3465
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.50683121640693e-5
allele num: 66606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.837e1

VQSLOD
type: SiteQuality
SIO_000300: -1.398e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 2.085048e6

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.1248e1

QD
type: SiteQuality
SIO_000300: 9.8e-1

GenotypeQuality
all individuals: 238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14926
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2346
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 11556
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: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.352e1

DP
type: SiteQuality
SIO_000300: 2.088895e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14935
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 2
allele frequency: 1.959247648902821e-4
allele num: 10208
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: 11554
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: 66682
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.091137e6

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

FS
type: SiteQuality
SIO_000300: 4.057e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.951e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14940
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3683
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21504
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
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: 906
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.34e0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 4.07e0

DP
type: SiteQuality
SIO_000300: 2.093687e6

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-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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variant carriers: 0

GenotypeQuality
all individuals: 4556
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variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
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: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.423e-1

FS
type: SiteQuality
SIO_000300: 7.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

DP
type: SiteQuality
SIO_000300: 2.094617e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.102e1

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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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: 46
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

East Asian
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allele count: 5
allele frequency: 5.784359093012494e-4
allele num: 8644
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: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

QD
type: SiteQuality
SIO_000300: 1.482e1

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 2.096622e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14957
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variant carriers: 6

GenotypeQuality
all individuals: 2380
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423948612289419e-4
allele num: 16502
num of homozygotes: 1

Other
type: Population
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: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.649999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 2.041e1

DP
type: SiteQuality
SIO_000300: 2.096927e6

FS
type: SiteQuality
SIO_000300: 6.026e0

VQSLOD
type: SiteQuality
SIO_000300: -9.351e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 14957
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.649999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
type: SiteQuality
SIO_000300: 2.041e1

FS
type: SiteQuality
SIO_000300: 6.026e0

VQSLOD
type: SiteQuality
SIO_000300: -9.351e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 2.096927e6

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 7699
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GenotypeQuality
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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: 54
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GenotypeQuality
all individuals: 3547
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.187e0

DP
type: SiteQuality
SIO_000300: 2.097689e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.003e0

GenotypeQuality
all individuals: 1913
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variant carriers: 0

GenotypeQuality
all individuals: 3558
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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: 2387
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GenotypeQuality
all individuals: 14966
bin: 9.75e1
variant carriers: 1

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

DP
type: SiteQuality
SIO_000300: 2.09832e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.507e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
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: 6614
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: 906
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 2.098993e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.706e0

QD
type: SiteQuality
SIO_000300: 1.181e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.482e0

MQ
type: SiteQuality
SIO_000300: 5.772e1

VQSLOD
type: SiteQuality
SIO_000300: -3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

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: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

DP
type: SiteQuality
SIO_000300: 2.099816e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 21350
bin: 6.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -9.233e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.176e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.45e0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
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: 6.75e1
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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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
type: Population
allele count: 6
allele frequency: 6.939625260235947e-4
allele num: 8646
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 2.100922e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.166e0

FS
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MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
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QD
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ClippingRankSum
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SIO_000300: 1.21e0

MQRankSum
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SIO_000300: -5.75e-1

DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.046e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 6.05766900896535e-4
allele num: 16508
num of homozygotes: 0

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.102696e6

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
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variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 1.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
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SIO_000300: 2.103427e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.29e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 10
allele frequency: 6.058403004967891e-4
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

QD
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SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-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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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.597e0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

DP
type: SiteQuality
SIO_000300: 2.104171e6

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.414e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

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

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

VQSLOD
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 2.116077e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.469e1

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

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

European (Finnish)
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allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 20
allele frequency: 1.728309713100588e-3
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 269
allele frequency: 4.031774580335731e-3
allele num: 66720
num of homozygotes: 2

African
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allele frequency: 1.443695861405197e-3
allele num: 10390
num of homozygotes: 0

South Asian
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allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
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Other
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South Asian
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African
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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FS
type: SiteQuality
SIO_000300: 1.886e0

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

South Asian
type: Population
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allele frequency: 6.05766900896535e-5
allele num: 16508
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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Latino
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Other
type: Population
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allele num: 906
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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DP
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SIO_000300: 2.109676e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7774
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Latino
type: Population
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allele num: 11576
num of homozygotes: 0

East Asian
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allele num: 8654
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Other
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

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

DP
type: SiteQuality
SIO_000300: 2.110699e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

VQSLOD
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MQ
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SIO_000300: 5.981e1

QD
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GenotypeQuality
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variant carriers: 0

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

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

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

Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

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

African
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allele num: 10402
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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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: 11

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-3
allele num: 8654
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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QD
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SIO_000300: 1.254e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66730
num of homozygotes: 0

Latino
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East Asian
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South Asian
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Other
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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African
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Other
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Latino
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allele num: 11578
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DP
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ClippingRankSum
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QD
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MQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

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

Latino
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allele num: 11578
num of homozygotes: 0

East Asian
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21294
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 66732
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.287e0

VQSLOD
type: SiteQuality
SIO_000300: -4.713e-1

DP
type: SiteQuality
SIO_000300: 2.11373e6

FS
type: SiteQuality
SIO_000300: 1.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.913e1

GenotypeQuality
all individuals: 21293
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15162
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1946
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.114292e6

VQSLOD
type: SiteQuality
SIO_000300: -2.227e0

QD
type: SiteQuality
SIO_000300: 3.16e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.705e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.107e0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21261
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.114514e6

FS
type: SiteQuality
SIO_000300: 5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

QD
type: SiteQuality
SIO_000300: 1.357e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

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

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

GenotypeQuality
all individuals: 2411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 66730
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
SIO_000300: 2.115018e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
all individuals: 4674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15173
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 7
allele frequency: 6.728181468665898e-4
allele num: 10404
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

DP
type: SiteQuality
SIO_000300: 2.115018e6

QD
type: SiteQuality
SIO_000300: 1.107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

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

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.115239e6

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.326e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.245e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

GenotypeQuality
all individuals: 4682
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1950
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.072e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.464e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.903e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

DP
type: SiteQuality
SIO_000300: 2.115418e6

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4680
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.116275e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.307e0

QD
type: SiteQuality
SIO_000300: 1.293e1

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

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 54

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 91

GenotypeQuality
all individuals: 2352
bin: 6.75e1
variant carriers: 21

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 6

East Asian
type: Population
allele count: 7151
allele frequency: 8.267052023121387e-1
allele num: 8650
num of homozygotes: 2952

African
type: Population
allele count: 8684
allele frequency: 8.345185469921199e-1
allele num: 10406
num of homozygotes: 3641

South Asian
type: Population
allele count: 8065
allele frequency: 4.886694134755211e-1
allele num: 16504
num of homozygotes: 2037

Latino
type: Population
allele count: 5355
allele frequency: 4.629149377593361e-1
allele num: 11568
num of homozygotes: 1225

Other
type: Population
allele count: 465
allele frequency: 5.12114537444934e-1
allele num: 908
num of homozygotes: 118

European (Finnish)
type: Population
allele count: 4029
allele frequency: 6.097154963680388e-1
allele num: 6608
num of homozygotes: 1229

European (Non-Finnish)
type: Population
allele count: 29327
allele frequency: 4.396456090906365e-1
allele num: 66706
num of homozygotes: 6502

DP
type: SiteQuality
SIO_000300: 4.352303e6

QD
type: SiteQuality
SIO_000300: 2.14e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.76e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeQuality
all individuals: 573
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 7045
bin: 9.75e1
variant carriers: 123

GenotypeQuality
all individuals: 35396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 8
allele frequency: 6.909656244601831e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049380865289479e-4
allele num: 66706
num of homozygotes: 0

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

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

African
type: Population
allele count: 106
allele frequency: 1.019230769230769e-2
allele num: 10400
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

DP
type: SiteQuality
SIO_000300: 2.080081e6

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7045
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2541
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10910
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 2.080081e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10935
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6931
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.768e1

VQSLOD
type: SiteQuality
SIO_000300: -3.74e0

MQ
type: SiteQuality
SIO_000300: 5.059e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.074985e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.713e0

MQRankSum
type: SiteQuality
SIO_000300: -4.622e0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 571
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.112e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 9.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 2.07476e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

GenotypeQuality
all individuals: 2403
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35531
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6917
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.01e0

DP
type: SiteQuality
SIO_000300: 2.074447e6

VQSLOD
type: SiteQuality
SIO_000300: -6.393e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.243e0

MQ
type: SiteQuality
SIO_000300: 5.039e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.427e0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.438e0

QD
type: SiteQuality
SIO_000300: 1.878e1

FS
type: SiteQuality
SIO_000300: 1.148e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 4.995e1

VQSLOD
type: SiteQuality
SIO_000300: -5.728e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.093e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

DP
type: SiteQuality
SIO_000300: 2.074337e6

GenotypeQuality
all individuals: 2388
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.244e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

DP
type: SiteQuality
SIO_000300: 2.073481e6

FS
type: SiteQuality
SIO_000300: 1.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6879
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35518
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: -9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -1.003e0

DP
type: SiteQuality
SIO_000300: 2.069483e6

QD
type: SiteQuality
SIO_000300: 1.474e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.556e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

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

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10840
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6881
bin: 9.75e1
variant carriers: 5

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.013590715015936e-5
allele num: 66516
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 2.067186e6

FS
type: SiteQuality
SIO_000300: 1.176e0

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0