17-48618851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618851
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618851
    reference: chr 17
allele count: 212
allele frequency: 1.757469244288225e-3
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*977C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*291C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1465C>T
  hgvsp: ENSP00000439512.1:p.Pro489Ser
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*544C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1381C>T
  hgvsp: ENSP00000268933.3:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1065C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*467C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17308
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro461Ser
num of homozygotes: 2
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-48618874-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618874
    reference: chr 17
allele count: 2
allele frequency: 1.655272871732905e-5
allele num: 120826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1088G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1404G>C
  hgvsp: ENST00000268933.3:c.1404G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*567G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1000G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1488G>C
  hgvsp: ENST00000537145.1:c.1488G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*314G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*490G>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr468Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

17-48618874-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618874
    reference: chr 17
allele count: 9
allele frequency: 7.448727922798074e-5
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*567G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1088G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*490G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1404G>T
  hgvsp: ENST00000268933.3:c.1404G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1488G>T
  hgvsp: ENST00000537145.1:c.1488G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*314G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1000G>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr468Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-48618884-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618884
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618884
    reference: chr 17
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1498G>C
  hgvsp: ENSP00000439512.1:p.Asp500His
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*324G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*577G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*500G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1414G>C
  hgvsp: ENSP00000268933.3:p.Asp472His
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1010G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1098G>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp472His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

17-48618891-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618891
    reference: chr 17
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1505T>G
  hgvsp: ENSP00000439512.1:p.Leu502Arg
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1017T>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1105T>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*584T>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1421T>G
  hgvsp: ENSP00000268933.3:p.Leu474Arg
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*331T>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*507T>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11721
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu474Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/17-48618894-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618894
    reference: chr 17
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*510A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1108A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*334A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1424A>C
  hgvsp: ENSP00000268933.3:p.Asp475Ala
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1020A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1508A>C
  hgvsp: ENSP00000439512.1:p.Asp503Ala
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*587A>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp475Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-48618898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618898
    reference: chr 17
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1112G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*591G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*514G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1024G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1512G>A
  hgvsp: ENST00000537145.1:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1428G>A
  hgvsp: ENST00000268933.3:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu476Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS

17-48618908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618908
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618908
    reference: chr 17
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*348G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1522G>A
  hgvsp: ENSP00000439512.1:p.Gly508Arg
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1438G>A
  hgvsp: ENSP00000268933.3:p.Gly480Arg
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1122G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*601G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1034G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*524G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly480Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48618909-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618909
    reference: chr 17
allele count: 77
allele frequency: 6.359116660885651e-4
allele num: 121086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*602G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1439G>C
  hgvsp: ENSP00000268933.3:p.Gly480Ala
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*349G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1523G>C
  hgvsp: ENSP00000439512.1:p.Gly508Ala
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1123G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1035G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*525G>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17437
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly480Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-48618909-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618909
    reference: chr 17
allele count: 10
allele frequency: 8.258593066085262e-5
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*602G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1123G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1439G>T
  hgvsp: ENSP00000268933.3:p.Gly480Val
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*349G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1035G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1523G>T
  hgvsp: ENSP00000439512.1:p.Gly508Val
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*525G>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11737
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly480Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

17-48618914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618914
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618914
    reference: chr 17
allele count: 2
allele frequency: 1.651227687785869e-5
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*530G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1040G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*607G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1128G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1528G>A
  hgvsp: ENSP00000439512.1:p.Ala510Thr
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*354G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1444G>A
  hgvsp: ENSP00000268933.3:p.Ala482Thr
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14967
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala482Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-48618915-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618915
    reference: chr 17
allele count: 2
allele frequency: 1.651173158529135e-5
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1529C>G
  hgvsp: ENSP00000439512.1:p.Ala510Gly
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1445C>G
  hgvsp: ENSP00000268933.3:p.Ala482Gly
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*355C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*531C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1129C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1041C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*608C>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala482Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

17-48618917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618917
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618917
    reference: chr 17
allele count: 41
allele frequency: 3.384625544842161e-4
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1131C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1043C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1531C>T
  hgvsp: ENST00000537145.1:c.1531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1447C>T
  hgvsp: ENST00000268933.3:c.1447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*357C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*610C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*533C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu483Leu
num of homozygotes: 1
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-48618922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618922
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618922
    reference: chr 17
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1536C>T
  hgvsp: ENST00000537145.1:c.1536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*538C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*615C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*362C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1048C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1136C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1452C>T
  hgvsp: ENST00000268933.3:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19732
  bin: 6.25e1
  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
hgvs: p.Thr484Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-48618931-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618931
    reference: chr 17
allele count: 22
allele frequency: 1.815870710005448e-4
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1545C>G
  hgvsp: ENSP00000439512.1:p.Ser515Arg
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*547C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*371C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1461C>G
  hgvsp: ENSP00000268933.3:p.Ser487Arg
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1057C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*624C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1145C>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11673
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser487Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-48618933-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618933
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618933
    reference: chr 17
allele count: 17
allele frequency: 1.403126495980455e-4
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1547A>T
  hgvsp: ENSP00000439512.1:p.Lys516Ile
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*373A>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1059A>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*626A>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*549A>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1463A>T
  hgvsp: ENSP00000268933.3:p.Lys488Ile
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1147A>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys488Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

17-48618942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618942
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618942
    reference: chr 17
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*382G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1068G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1556G>A
  hgvsp: ENSP00000439512.1:p.Arg519Gln
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*635G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1472G>A
  hgvsp: ENSP00000268933.3:p.Arg491Gln
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*558G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1156G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19713
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg491Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/17-48618945-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618945
    reference: chr 17
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*638C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1071C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*385C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1475C>A
  hgvsp: ENSP00000268933.3:p.Ala492Asp
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1559C>A
  hgvsp: ENSP00000439512.1:p.Ala520Asp
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*561C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1159C>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala492Asp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-48618945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618945
    reference: chr 17
allele count: 27
allele frequency: 2.228458237041928e-4
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*638C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1559C>T
  hgvsp: ENSP00000439512.1:p.Ala520Val
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1159C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*561C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1475C>T
  hgvsp: ENSP00000268933.3:p.Ala492Val
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*385C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1071C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17496
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala492Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

17-48618949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618949
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618949
    reference: chr 17
allele count: 16
allele frequency: 1.320655044902272e-4
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1479C>T
  hgvsp: ENST00000268933.3:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1163C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*642C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*389C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1075C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*565C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1563C>T
  hgvsp: ENST00000537145.1:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys493Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-48618951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618951
    reference: chr 17
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1565G>A
  hgvsp: ENSP00000439512.1:p.Arg522Gln
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1077G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*644G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1481G>A
  hgvsp: ENSP00000268933.3:p.Arg494Gln
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*391G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*567G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1165G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg494Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-48618952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618952
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618952
    reference: chr 17
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1166G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1078G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*568G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1566G>A
  hgvsp: ENST00000537145.1:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1482G>A
  hgvsp: ENST00000268933.3:c.1482G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*392G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*645G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg494Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-48618955-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618955
    reference: chr 17
allele count: 4
allele frequency: 3.301310620316266e-5
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1485T>G
  hgvsp: ENST00000268933.3:c.1485T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*648T>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*571T>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1569T>G
  hgvsp: ENST00000537145.1:c.1569T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*395T>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1081T>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1169T>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr495Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-48618958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618958
    reference: chr 17
allele count: 5
allele frequency: 4.126978886376017e-5
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*398C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1488C>T
  hgvsp: ENST00000268933.3:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1084C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1572C>T
  hgvsp: ENST00000537145.1:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*651C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1172C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*574C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro496Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

17-48618962-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618962
    reference: chr 17
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*578T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1492T>C
  hgvsp: ENSP00000268933.3:p.Ser498Pro
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1176T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1576T>C
  hgvsp: ENSP00000439512.1:p.Ser526Pro
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1088T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*655T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*402T>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser498Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-48618974-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618974
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618974
    reference: chr 17
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*590C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1100C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1504C>A
  hgvsp: ENSP00000268933.3:p.Pro502Thr
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*414C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1588C>A
  hgvsp: ENSP00000439512.1:p.Pro530Thr
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1188C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*667C>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro502Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-48618979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618979
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618979
    reference: chr 17
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1193A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1105A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*672A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1509A>G
  hgvsp: ENST00000268933.3:c.1509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1593A>G
  hgvsp: ENST00000537145.1:c.1593A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*419A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*595A>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser503Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-48618989-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618989
    reference: chr 17
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1203T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*429T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1115T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*605T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*682T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1519T>C
  hgvsp: ENST00000268933.3:c.1519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1603T>C
  hgvsp: ENST00000537145.1:c.1603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11612
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5678
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu507Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-48618999-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48618999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48618999
    reference: chr 17
allele count: 19
allele frequency: 1.570299844622963e-4
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*439T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1125T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1529T>C
  hgvsp: ENSP00000268933.3:p.Leu510Pro
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*615T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*692T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1613T>C
  hgvsp: ENSP00000439512.1:p.Leu538Pro
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1213T>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14760
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu510Pro
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: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

17-48619005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619005
    reference: chr 17
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*445C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*698C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1131C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*621C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1535C>T
  hgvsp: ENSP00000268933.3:p.Ser512Leu
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1619C>T
  hgvsp: ENSP00000439512.1:p.Ser540Leu
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1219C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser512Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-48619009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619009
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619009
    reference: chr 17
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1623G>A
  hgvsp: ENST00000537145.1:c.1623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*449G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*702G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*625G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1223G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1135G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1539G>A
  hgvsp: ENST00000268933.3:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11600
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu513Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-48619015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619015
    reference: chr 17
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1229G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*708G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1141G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1629G>C
  hgvsp: ENSP00000439512.1:p.Lys543Asn
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1545G>C
  hgvsp: ENSP00000268933.3:p.Lys515Asn
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*455G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*631G>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys515Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

17-48619025-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619025
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619024
    reference: chr 17
allele count: 155
allele frequency: 1.283728942704279e-3
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*467delT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1241delT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1641delT
  hgvsp: ENSP00000439512.1:p.Ala548GlnfsTer8
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1557delT
  hgvsp: ENSP00000268933.3:p.Ala520GlnfsTer8
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*643delT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*720delT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1153delT
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 17191
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala520GlnfsTer8
num of homozygotes: 1
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: GT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-48619034-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619034
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619034
    reference: chr 17
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*727A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1160A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1648A>C
  hgvsp: ENSP00000439512.1:p.Thr550Pro
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1248A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*650A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*474A>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1564A>C
  hgvsp: ENSP00000268933.3:p.Thr522Pro
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr522Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-48619034-ACCCGGAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619034
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619026
    reference: chr 17
allele count: 17
allele frequency: 1.409712087037283e-4
allele num: 120592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsp: ENSP00000268933.3:p.Arg523LeufsTer72
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsp: ENSP00000439512.1:p.Arg551LeufsTer72
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17175
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14586
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11550
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg523LeufsTer72
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: ACCCGGAAC
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-48619041-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619041
    reference: chr 17
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*734A>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1655A>T
  hgvsp: ENSP00000439512.1:p.Asn552Ile
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1571A>T
  hgvsp: ENSP00000268933.3:p.Asn524Ile
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*481A>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*657A>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1255A>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1167A>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11531
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn524Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48619043-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619043
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619043
    reference: chr 17
allele count: 3
allele frequency: 2.491280518186348e-5
allele num: 120420
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1573C>G
  hgvsp: ENSP00000268933.3:p.Pro525Ala
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*659C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1257C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1169C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1657C>G
  hgvsp: ENSP00000439512.1:p.Pro553Ala
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*736C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*483C>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro525Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-48619051-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619051
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619051
    reference: chr 17
allele count: 5
allele frequency: 4.155308822551692e-5
allele num: 120328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1581G>C
  hgvsp: ENST00000268933.3:c.1581G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1177G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*744G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*667G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*491G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1665G>C
  hgvsp: ENST00000537145.1:c.1665G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1265G>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11526
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu527Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

17-48619054-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619054
    reference: chr 17
allele count: 7
allele frequency: 5.818109280715461e-5
allele num: 120314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*494A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1668A>G
  hgvsp: ENST00000537145.1:c.1668A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*747A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1180A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1268A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1584A>G
  hgvsp: ENST00000268933.3:c.1584A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*670A>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1584A>G
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

17-48619057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619057
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619057
    reference: chr 17
allele count: 5
allele frequency: 4.157865850616196e-5
allele num: 120254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+2T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+2T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+2T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+2T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+2T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+2T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+2T>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14371
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1585+2T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

17-48619060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619060
    reference: chr 17
allele count: 1
allele frequency: 8.318221896887321e-6
allele num: 120218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+5G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+5G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+5G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+5G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+5G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+5G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+5G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1585+5G>A
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-48619066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619066
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619066
    reference: chr 17
allele count: 1
allele frequency: 8.335834083558401e-6
allele num: 119964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+11C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+11C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+11C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+11C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+11C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+11C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+11C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

17-48619072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619072
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619072
    reference: chr 17
allele count: 2
allele frequency: 1.669895130585799e-5
allele num: 119768
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+17T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+17T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+17T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+17T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+17T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+17T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+17T>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-48619072-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619072
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619071
    reference: chr 17
allele count: 1
allele frequency: 8.349475652928997e-6
allele num: 119768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+20delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+20delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+20delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+20delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+20delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+20delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+20delC
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: TC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

17-48619073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619073
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619073
    reference: chr 17
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+18C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+18C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+18C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+18C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+18C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+18C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+18C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11499
  bin: 9.75e1
  variant carriers: 1
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: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-48619080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619080
    reference: chr 17
allele count: 1
allele frequency: 8.369041242635244e-6
allele num: 119488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+25C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+25C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+25C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+25C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+25C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+25C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+25C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48619085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619085
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619085
    reference: chr 17
allele count: 1
allele frequency: 8.378016085790886e-6
allele num: 119360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+30G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13815
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5389
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-48619090-CCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619090
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619087
    reference: chr 17
allele count: 1
allele frequency: 8.385462961410099e-6
allele num: 119254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+38_1669+40delGCT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+38_*1181+40delGCT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+38_*671+40delGCT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+38_1585+40delGCT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+38_*495+40delGCT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+38_*1269+40delGCT
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+38_*748+40delGCT
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: CCTG
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

17-48619094-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619094
    reference: chr 17
allele count: 1
allele frequency: 8.397574780403419e-6
allele num: 119082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+39C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+39C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+39C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+39C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+39C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+39C>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+39C>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-48619095-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619095
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619095
    reference: chr 17
allele count: 1
allele frequency: 8.393063971933595e-6
allele num: 119146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+40T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+40T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+40T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+40T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+40T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+40T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+40T>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-48619107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619107
    reference: chr 17
allele count: 1
allele frequency: 8.409580193756727e-6
allele num: 118912
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1585+52G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*748+52G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1669+52G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1181+52G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*495+52G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*671+52G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1269+52G>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11777
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/17-48619154-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619154
    reference: chr 17
allele count: 4
allele frequency: 3.342022592072722e-5
allele num: 119688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-51C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-51C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-51C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-51C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-51C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-51C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-51C>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-48619157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619157
    reference: chr 17
allele count: 17
allele frequency: 1.420027398175683e-4
allele num: 119716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-48T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-48T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-48T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-48T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-48T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-48T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-48T>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11211
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-48619175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619175
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619175
    reference: chr 17
allele count: 1571
allele frequency: 1.312184691457018e-2
allele num: 119724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-30G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-30G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 3.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 13968
  bin: 2.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 3.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 4.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19695
  bin: 9.75e1
  variant carriers: 1425
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 98
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-48619177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619177
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619177
    reference: chr 17
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-28G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-28G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-28G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-28G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-28G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-28G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-28G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

17-48619180-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619180
    reference: chr 17
allele count: 7
allele frequency: 5.850592581448607e-5
allele num: 119646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-25A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-25A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-25A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-25A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-25A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-25A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-25A>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14300
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-48619181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619181
    reference: chr 17
allele count: 2
allele frequency: 1.671346436689397e-5
allele num: 119664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-24C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-24C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-24C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-24C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-24C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-24C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-24C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

17-48619190-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619190
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619190
    reference: chr 17
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-15A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-15A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-15A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-15A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-15A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-15A>G
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-15A>G
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18545
  bin: 9.75e1
  variant carriers: 1
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: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-48619192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619192
    reference: chr 17
allele count: 1
allele frequency: 8.361483661660925e-6
allele num: 119596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-13T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-13T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-13T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-13T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-13T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-13T>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-13T>C
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-48619199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619199
    reference: chr 17
allele count: 1
allele frequency: 8.367500627562547e-6
allele num: 119510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*749-6C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*672-6C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1182-6C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1586-6C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1270-6C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*496-6C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1670-6C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1586-6C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-48619217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619217
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619217
    reference: chr 17
allele count: 1
allele frequency: 8.40463263350759e-6
allele num: 118982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1194C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1598C>T
  hgvsp: ENSP00000268933.3:p.Pro533Leu
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*508C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1682C>T
  hgvsp: ENSP00000439512.1:p.Pro561Leu
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*761C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1282C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*684C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro533Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

17-48619218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619218
    reference: chr 17
allele count: 1
allele frequency: 8.406186953597848e-6
allele num: 118960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1683G>A
  hgvsp: ENST00000537145.1:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1599G>A
  hgvsp: ENST00000268933.3:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*509G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*762G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1195G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*685G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1283G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro533Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-48619218-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619218
    reference: chr 17
allele count: 1
allele frequency: 8.406186953597848e-6
allele num: 118960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*762G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1683G>C
  hgvsp: ENST00000537145.1:c.1683G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1283G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*685G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*509G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1195G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1599G>C
  hgvsp: ENST00000268933.3:c.1599G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro533Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-48619218-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619218
    reference: chr 17
allele count: 2
allele frequency: 1.68123739071957e-5
allele num: 118960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*762G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1599G>T
  hgvsp: ENST00000268933.3:c.1599G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1283G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1195G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*509G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*685G>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1683G>T
  hgvsp: ENST00000537145.1:c.1683G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro533Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-48619226-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619226
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619226
    reference: chr 17
allele count: 77
allele frequency: 6.497780628175052e-4
allele num: 118502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*693C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1691C>A
  hgvsp: ENSP00000439512.1:p.Thr564Asn
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*770C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1607C>A
  hgvsp: ENSP00000268933.3:p.Thr536Asn
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*517C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1203C>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1291C>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr536Asn
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

17-48619226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619226
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619226
    reference: chr 17
allele count: 1
allele frequency: 8.438676140487081e-6
allele num: 118502
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1607C>T
  hgvsp: ENSP00000268933.3:p.Thr536Ile
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1291C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*770C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1691C>T
  hgvsp: ENSP00000439512.1:p.Thr564Ile
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*693C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1203C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*517C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr536Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-48619229-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619229
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619228
    reference: chr 17
allele count: 1
allele frequency: 8.467543904215143e-6
allele num: 118098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1209delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*776delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1297delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1613delC
  hgvsp: ENSP00000268933.3:p.Pro538ArgfsTer12
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*699delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*523delC
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1697delC
  hgvsp: ENSP00000439512.1:p.Pro566ArgfsTer12
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro538ArgfsTer12
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: AC
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

17-48619233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619233
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619233
    reference: chr 17
allele count: 6
allele frequency: 5.084056399132321e-5
allele num: 118016
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1614G>A
  hgvsp: ENST00000268933.3:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1698G>A
  hgvsp: ENST00000537145.1:c.1698G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*700G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1298G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*777G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1210G>A
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*524G>A
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro538Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS

17-48619233-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619233
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619233
    reference: chr 17
allele count: 1
allele frequency: 8.473427331887202e-6
allele num: 118016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*524G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*777G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1210G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1614G>C
  hgvsp: ENST00000268933.3:c.1614G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1298G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*700G>C
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1698G>C
  hgvsp: ENST00000537145.1:c.1698G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro538Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-48619236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619236
    reference: chr 17
allele count: 3
allele frequency: 2.548246806197336e-5
allele num: 117728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1213C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1301C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1701C>T
  hgvsp: ENST00000537145.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*780C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*703C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1617C>T
  hgvsp: ENST00000268933.3:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*527C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18501
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe539Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-48619239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619239
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619239
    reference: chr 17
allele count: 2
allele frequency: 1.699726344058606e-5
allele num: 117666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1216C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1304C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1704C>T
  hgvsp: ENST00000537145.1:c.1704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*706C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1620C>T
  hgvsp: ENST00000268933.3:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*783C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*530C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18500
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly540Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-48619245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48619245
    reference: chr 17
allele count: 1
allele frequency: 8.537959769133568e-6
allele num: 117124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421936
  ensembl transcript: ENST00000512291
  gene symbol: EPN3
  hgvsc: ENST00000512291.1:c.*1222C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000440540
  ensembl transcript: ENST00000541226
  gene symbol: EPN3
  hgvsc: ENST00000541226.1:c.*536C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000421933
  ensembl transcript: ENST00000510045
  gene symbol: EPN3
  hgvsc: ENST00000510045.1:c.*789C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000268933
  ensembl transcript: ENST00000268933
  gene symbol: EPN3
  hgvsc: ENST00000268933.3:c.1626C>T
  hgvsp: ENST00000268933.3:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000439512
  ensembl transcript: ENST00000537145
  gene symbol: EPN3
  hgvsc: ENST00000537145.1:c.1710C>T
  hgvsp: ENST00000537145.1:c.1710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000422201
  ensembl transcript: ENST00000512379
  gene symbol: EPN3
  hgvsc: ENST00000512379.1:c.*1310C>T
  variant of: http://identifiers.org/hgnc/18235
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049283
  ensembl protein: ENSP00000460911
  ensembl transcript: ENST00000574464
  gene symbol: EPN3
  hgvsc: ENST00000574464.1:c.*712C>T
  variant of: http://identifiers.org/hgnc/18235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly542Gly
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11898
bin: 9.75e1
variant carriers: 210

GenotypeQuality
all individuals: 19240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 193
allele frequency: 1.879259980525803e-2
allele num: 10270
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509707418702255e-5
allele num: 66238
num of homozygotes: 0

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

Latino
type: Population
allele count: 17
allele frequency: 1.473647711511789e-3
allele num: 11536
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 2.046001e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.201e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 1.768e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

GenotypeQuality
all individuals: 19452
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11732
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
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: 10316
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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 1.139e0

DP
type: SiteQuality
SIO_000300: 2.042307e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11732
bin: 9.75e1
variant carriers: 9

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.244482173174873e-4
allele num: 16492
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: 2
allele frequency: 3.014045451805413e-5
allele num: 66356
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 1.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

QD
type: SiteQuality
SIO_000300: 1.169e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.042307e6

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 7.25e1
variant carriers: 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: 16496
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: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.422e0

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.858e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

FS
type: SiteQuality
SIO_000300: 7.206e0

DP
type: SiteQuality
SIO_000300: 2.042722e6

QD
type: SiteQuality
SIO_000300: 1.523e1

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8296
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19587
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variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
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variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
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: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

FS
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.306e0

DP
type: SiteQuality
SIO_000300: 2.043171e6

QD
type: SiteQuality
SIO_000300: 1.493e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 5751
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variant carriers: 0

GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 11721
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2380
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variant carriers: 0

GenotypeQuality
all individuals: 8293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 2
allele frequency: 3.008966720828068e-5
allele num: 66468
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 3.489e0

DP
type: SiteQuality
SIO_000300: 2.04324e6

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

GenotypeQuality
all individuals: 2379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 11717
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variant carriers: 1

GenotypeQuality
all individuals: 19524
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variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 246
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4703
bin: 8.25e1
variant carriers: 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: 10340
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.913e0

MQ
type: SiteQuality
SIO_000300: 5.798e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.835e0

QD
type: SiteQuality
SIO_000300: 1.365e1

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.805e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

DP
type: SiteQuality
SIO_000300: 2.04325e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 4.457e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 8300
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 11715
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
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: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.091e1

VQSLOD
type: SiteQuality
SIO_000300: -5.718e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.753e0

DP
type: SiteQuality
SIO_000300: 2.043815e6

FS
type: SiteQuality
SIO_000300: 8.151999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.217e0

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

GenotypeQuality
all individuals: 11737
bin: 9.75e1
variant carriers: 77

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 19689
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4699
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.541326067211626e-4
allele num: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.11419984973704e-4
allele num: 66550
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.485877076009214e-4
allele num: 16498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 2.046013e6

FS
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.848e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 5741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 32
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 6.76459219172787e-4
allele num: 10348
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: 66550
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.596053997923157e-4
allele num: 11556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.848e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
type: SiteQuality
SIO_000300: 2.046013e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
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variant carriers: 0

GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004175804368072e-5
allele num: 66574
num of homozygotes: 0

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

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

Other
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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: 16498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.042313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.042275e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.298e0

ReadPosRankSum
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SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

QD
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SIO_000300: 1.089e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 40

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 37
allele frequency: 2.242696084373864e-3
allele num: 16498
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.415011037527594e-3
allele num: 906
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.176e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 2.044329e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.664e0

VQSLOD
type: SiteQuality
SIO_000300: -4.467e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 2.042132e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.101975857305867e-4
allele num: 66604
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.636804461146806e-4
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.042355e6

GenotypeQuality
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bin: 2.5e0
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: 16

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.651453278885419e-4
allele num: 66608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
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: 5
allele frequency: 4.825323296660876e-4
allele num: 10362
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.041855e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.681e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

QD
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FS
type: SiteQuality
SIO_000300: 3.324e0

DP
type: SiteQuality
SIO_000300: 2.040794e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
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: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8626
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QD
type: SiteQuality
SIO_000300: 1.282e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.166e0

DP
type: SiteQuality
SIO_000300: 2.040883e6

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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GenotypeQuality
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variant carriers: 0

African
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allele count: 17
allele frequency: 1.64156044804944e-3
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200912693647172e-4
allele num: 66616
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.282e1

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
all individuals: 48
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GenotypeQuality
all individuals: 3
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.252049364922079e-4
allele num: 66606
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Other
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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: 8624
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 2.039878e6

MQ
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SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.522e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
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: 16502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

FS
type: SiteQuality
SIO_000300: 2.816e0

BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.039282e6

ClippingRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.543e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 201
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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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.182e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.416e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
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SIO_000300: 2.03921e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 76
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GenotypeQuality
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variant carriers: 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: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.637143519591931e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.371e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 1.876e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.038978e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 93
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.828118964851294e-4
allele num: 10356
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

DP
type: SiteQuality
SIO_000300: 2.03896e6

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 15
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variant carriers: 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: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
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: 66616
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.857e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

DP
type: SiteQuality
SIO_000300: 2.038568e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.315e0

DP
type: SiteQuality
SIO_000300: 2.037568e6

GenotypeQuality
all individuals: 1
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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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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 10330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.09e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.227e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

African
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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 frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.816e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.204e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.034031e6

QD
type: SiteQuality
SIO_000300: 1.525e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
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allele count: 13
allele frequency: 1.263362487852284e-3
allele num: 10290
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
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509921828021648e-5
allele num: 66520
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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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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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.565e0

VQSLOD
type: SiteQuality
SIO_000300: -5.594e-1

BaseQRankSum
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SIO_000300: 3.04e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.681e0

DP
type: SiteQuality
SIO_000300: 2.030255e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-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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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 frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
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SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.388e0

DP
type: SiteQuality
SIO_000300: 2.029132e6

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 900
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

DP
type: SiteQuality
SIO_000300: 2.026367e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.356e0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 1.0244e1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e-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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GenotypeQuality
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variant carriers: 154

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 3
allele frequency: 2.947533896639811e-4
allele num: 10178
num of homozygotes: 0

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

Latino
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allele count: 152
allele frequency: 1.316245237270523e-2
allele num: 11548
num of homozygotes: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66396
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

FS
type: SiteQuality
SIO_000300: 1.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

MQ
type: SiteQuality
SIO_000300: 6.014e1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

DP
type: SiteQuality
SIO_000300: 2.025876e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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South Asian
type: Population
allele count: 1
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allele num: 16500
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 4.45e0

FS
type: SiteQuality
SIO_000300: 5.034e0

MQRankSum
type: SiteQuality
SIO_000300: -4.405e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.29e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 2.017426e6

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: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.261011124174731e-4
allele num: 66342
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.017426e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

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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GenotypeQuality
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South Asian
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allele num: 16496
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

East Asian
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allele frequency: 1.162250116225012e-4
allele num: 8604
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.3573e1

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

VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.013802e6

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 898
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.487561032318065e-4
allele num: 8602
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66260
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.586e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9976
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 2.425418384671356e-4
allele num: 16492
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MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.023e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-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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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

African
type: Population
allele count: 1
allele frequency: 1.002606777621817e-4
allele num: 9974
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.638568829593693e-4
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.38e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.113e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 2.006893e6

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 2.939e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.533365570599613e-5
allele num: 66176
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.007628990162618e-4
allele num: 9962
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

DP
type: SiteQuality
SIO_000300: 2.004017e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 3.28e0

FS
type: SiteQuality
SIO_000300: 2.013e0

VQSLOD
type: SiteQuality
SIO_000300: -1.388e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511441613010489e-5
allele num: 66162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

VQSLOD
type: SiteQuality
SIO_000300: -8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.781e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.049e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.000406e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514921981517952e-5
allele num: 66010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

FS
type: SiteQuality
SIO_000300: 9.757e0

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

DP
type: SiteQuality
SIO_000300: 1.986324e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
all individuals: 661
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 369
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variant carriers: 0

GenotypeQuality
all individuals: 7548
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.02388180530257e-4
allele num: 9882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 1.970878e6

QD
type: SiteQuality
SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

GenotypeQuality
all individuals: 782
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65902
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: 900
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 6.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

DP
type: SiteQuality
SIO_000300: 1.970878e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517542794706811e-5
allele num: 65896
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 1.967825e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.217e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 1.9341e1

VQSLOD
type: SiteQuality
SIO_000300: -3.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65740
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-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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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: 898
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.357e1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.931673e6

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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GenotypeQuality
all individuals: 1377
bin: 3.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.922464e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.024e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 3.144e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527230520174715e-5
allele num: 65478
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.288e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.512e0

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

DP
type: SiteQuality
SIO_000300: 1.91507e6

FS
type: SiteQuality
SIO_000300: 8.615e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.705e1

GenotypeQuality
all individuals: 1539
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
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GenotypeQuality
all individuals: 3302
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.651e0

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.914823e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
all individuals: 1286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529145513487063e-5
allele num: 65396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.462e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

DP
type: SiteQuality
SIO_000300: 1.913765e6

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.684e0

GenotypeQuality
all individuals: 3202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 695
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GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.07053967097675e-5
allele num: 65892
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.001e1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

DP
type: SiteQuality
SIO_000300: 2.373433e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
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variant carriers: 0

GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 387
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variant carriers: 0

GenotypeQuality
all individuals: 332
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variant carriers: 0

GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 18846
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variant carriers: 17

GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 2509
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GenotypeQuality
all individuals: 2834
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variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.669347740310195e-4
allele num: 65894
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.107252298263534e-4
allele num: 9790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.372441e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 2423
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variant carriers: 13

GenotypeQuality
all individuals: 1727
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GenotypeQuality
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GenotypeQuality
all individuals: 27
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GenotypeQuality
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GenotypeQuality
all individuals: 18061
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variant carriers: 10

GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 3008
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variant carriers: 5

GenotypeQuality
all individuals: 6592
bin: 6.75e1
variant carriers: 3

South Asian
type: Population
allele count: 3
allele frequency: 1.817961459217065e-4
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 1376
allele frequency: 1.397238017871649e-1
allele num: 9848
num of homozygotes: 97

Latino
type: Population
allele count: 74
allele frequency: 6.414701803051317e-3
allele num: 11536
num of homozygotes: 1

Other
type: Population
allele count: 9
allele frequency: 1.013513513513514e-2
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 109
allele frequency: 1.654925300619458e-3
allele num: 65864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.022e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.464e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.391285e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1761
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GenotypeQuality
all individuals: 3072
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.673e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.374515e6

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

FS
type: SiteQuality
SIO_000300: 6.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.666e0

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

GenotypeQuality
all individuals: 383
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GenotypeQuality
all individuals: 18551
bin: 9.75e1
variant carriers: 7

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

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

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

African
type: Population
allele count: 7
allele frequency: 7.163323782234957e-4
allele num: 9772
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.834e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.374466e6

QD
type: SiteQuality
SIO_000300: 9.6e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

GenotypeQuality
all individuals: 316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 150
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 3065
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3480
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GenotypeQuality
all individuals: 18579
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036099219722501e-5
allele num: 65874
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.595e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.889e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.374805e6

QD
type: SiteQuality
SIO_000300: 1.053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 1756
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 2462
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GenotypeQuality
all individuals: 3063
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GenotypeQuality
all individuals: 6749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519664458087654e-5
allele num: 65804
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

FS
type: SiteQuality
SIO_000300: 4.612e0

VQSLOD
type: SiteQuality
SIO_000300: -5.17e-1

QD
type: SiteQuality
SIO_000300: 7.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.37518e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -2.194e0

DP
type: SiteQuality
SIO_000300: 2.374334e6

ReadPosRankSum
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VQSLOD
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SIO_000300: -3.719e0

FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.404e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.751e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65744
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.891e0

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.641e0

DP
type: SiteQuality
SIO_000300: 2.371575e6

QD
type: SiteQuality
SIO_000300: 1.388e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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bin: 2.5e0
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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GenotypeQuality
all individuals: 202
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variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.92e0

DP
type: SiteQuality
SIO_000300: 2.354471e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
SIO_000300: 2.803e1

FS
type: SiteQuality
SIO_000300: 1.875e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.019e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529005229197884e-5
allele num: 65402
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

DP
type: SiteQuality
SIO_000300: 2.35422e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2690
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.033484911120298e-4
allele num: 9676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 2.35422e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

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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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.066969822240595e-4
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6444
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
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Other
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VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.144393241167435e-5
allele num: 65100
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
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Latino
type: Population
allele count: 7
allele frequency: 6.092254134029591e-4
allele num: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

African
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allele count: 66
allele frequency: 6.910994764397905e-3
allele num: 9550
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11490
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9550
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.170138076293003e-4
allele num: 8546
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9478
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South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8530
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64892
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.339291e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 3.463e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18504
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.037297677691766e-4
allele num: 8526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64790
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.145e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

DP
type: SiteQuality
SIO_000300: 2.334633e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.168e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 5.76e-1

GenotypeQuality
all individuals: 3334
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.168e0

DP
type: SiteQuality
SIO_000300: 2.334633e6

QD
type: SiteQuality
SIO_000300: 1.145e1

FS
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 3315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.066325442525059e-4
allele num: 9378
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 1.652e0

DP
type: SiteQuality
SIO_000300: 2.330867e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

VQSLOD
type: SiteQuality
SIO_000300: -2.037e0

QD
type: SiteQuality
SIO_000300: 2.325e1

GenotypeQuality
all individuals: 6158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548946716232962e-5
allele num: 64560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 2.328618e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1