19-46119859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119859
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119859
    reference: chr 19
allele count: 1
allele frequency: 9.200647725599883e-6
allele num: 108688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.593-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2015-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*196-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.503-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*694-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*408-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+164G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1412-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1412-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1853-43G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+164G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-46119861-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119861
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119861
    reference: chr 19
allele count: 70
allele frequency: 6.49483196941862e-4
allele num: 107778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+162A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+162A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1412-45A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.593-45A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*196-45A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.503-45A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*694-45A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2015-45A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*408-45A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1412-45A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1853-45A>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-46119862-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119862
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119862
    reference: chr 19
allele count: 1
allele frequency: 9.376465072667604e-6
allele num: 106650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.593-46G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*694-46G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1853-46G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1412-46G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+161G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2015-46G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1412-46G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*196-46G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.503-46G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+161G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*408-46G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/19-46119867-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119867
    reference: chr 19
allele count: 33382
allele frequency: 3.1158527479092e-1
allele num: 107136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*694-51G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*196-51G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+156G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1412-51G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2015-51G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.503-51G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+156G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1853-51G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1412-51G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*408-51G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.593-51G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 1.25e1
  variant carriers: 5293
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 2.25e1
  variant carriers: 7016
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.75e1
  variant carriers: 1030
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 399
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 7.5e0
  variant carriers: 1719
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.25e1
  variant carriers: 2304
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14473
  bin: 1.75e1
  variant carriers: 7647
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 2.75e1
  variant carriers: 4461
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
num of homozygotes: 5087
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-46119867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119867
    reference: chr 19
allele count: 1
allele frequency: 9.333930704898446e-6
allele num: 107136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*408-51G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*196-51G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+156G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.593-51G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1412-51G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1853-51G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*694-51G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2015-51G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1412-51G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+156G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.503-51G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

19-46119975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119975
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119975
    reference: chr 19
allele count: 1
allele frequency: 1.058828512134175e-5
allele num: 94444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+48G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+48G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

19-46119988-CCCTGCCGCTTGGGTGTCCCAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119988
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119966
    reference: chr 19
allele count: 1
allele frequency: 1.042079156332715e-5
allele num: 95962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12828
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: CCCTGCCGCTTGGGTGTCCCAGG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-46119989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119989
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119989
    reference: chr 19
allele count: 1
allele frequency: 1.038335340781659e-5
allele num: 96308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+34G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-46119990-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119990
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 96574
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+33G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+33G>C
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11305
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

19-46119994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46119994
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46119994
    reference: chr 19
allele count: 1
allele frequency: 1.028700750951548e-5
allele num: 97210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+29G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+29G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

19-46120003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120003
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120003
    reference: chr 19
allele count: 15020
allele frequency: 1.447264458191208e-1
allele num: 103782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+20C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+20C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.75e1
  variant carriers: 1920
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 612
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 18491
  bin: 2.25e1
  variant carriers: 2900
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 11382
  bin: 1.25e1
  variant carriers: 2031
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 1.75e1
  variant carriers: 3434
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 348
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 7.5e0
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 3.25e1
  variant carriers: 1036
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 316
genotype quality: GenotypeQuality
num of homozygotes: 990
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-46120011-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120011
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120011
    reference: chr 19
allele count: 1
allele frequency: 9.363997303168776e-6
allele num: 106792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+12G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+12G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22176
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-46120013-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120013
    reference: chr 19
allele count: 1
allele frequency: 9.292471239801512e-6
allele num: 107614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+10A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+10A>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

19-46120014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120014
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120014
    reference: chr 19
allele count: 1
allele frequency: 9.276609955657804e-6
allele num: 107798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+9C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+9C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

19-46120016-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120016
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120016
    reference: chr 19
allele count: 6
allele frequency: 5.530157793835718e-5
allele num: 108496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+7G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+7G>C
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2014+7G>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-46120017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120017
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120017
    reference: chr 19
allele count: 1
allele frequency: 9.166743056192134e-6
allele num: 109090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+6C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+6C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25770
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2014+6C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-46120018-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120018
    reference: chr 19
allele count: 1
allele frequency: 9.112115468727219e-6
allele num: 109744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*59+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1411+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*195+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2014+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.502+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1852+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.592+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*407+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1411+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*693+5G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.188+5G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26743
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2014+5G>T
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff

19-46120033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120033
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120033
    reference: chr 19
allele count: 2
allele frequency: 1.763326338805523e-5
allele num: 113422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1401C>T
  hgvsp: ENST00000245925.3:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.492C>T
  hgvsp: ENST00000590575.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.178C>T
  hgvsp: ENST00000587484.1:c.178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*185C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*683C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2004C>T
  hgvsp: ENST00000587152.1:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*397C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1842C>T
  hgvsp: ENST00000536630.1:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1401C>T
  hgvsp: ENST00000589876.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.582C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser668Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-46120034-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120034
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120034
    reference: chr 19
allele count: 1
allele frequency: 8.804366966015144e-6
allele num: 113580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*184G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1400G>T
  hgvsp: ENSP00000245925.2:p.Ser467Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1400G>T
  hgvsp: ENSP00000464789.1:p.Ser467Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*682G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.491G>T
  hgvsp: ENSP00000464764.1:p.Ser164Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*48G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1841G>T
  hgvsp: ENSP00000442365.1:p.Ser614Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.2003G>T
  hgvsp: ENSP00000468312.1:p.Ser668Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.581G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.177G>T
  hgvsp: ENSP00000465994.1:p.Ser60Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*396G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser668Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-46120042-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120042
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120042
    reference: chr 19
allele count: 1
allele frequency: 8.691570914527092e-6
allele num: 115054
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1995A>G
  hgvsp: ENST00000587152.1:c.1995A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.169A>G
  hgvsp: ENST00000587484.1:c.169A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*176A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1833A>G
  hgvsp: ENST00000536630.1:c.1833A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*674A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.483A>G
  hgvsp: ENST00000590575.1:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1392A>G
  hgvsp: ENST00000245925.3:c.1392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*388A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1392A>G
  hgvsp: ENST00000589876.1:c.1392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.573A>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser665Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-46120048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120048
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120048
    reference: chr 19
allele count: 1
allele frequency: 8.64169792080748e-6
allele num: 115718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.163G>A
  hgvsp: ENST00000587484.1:c.163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1827G>A
  hgvsp: ENST00000536630.1:c.1827G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1386G>A
  hgvsp: ENST00000245925.3:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1386G>A
  hgvsp: ENST00000589876.1:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.477G>A
  hgvsp: ENST00000590575.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.567G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*668G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1989G>A
  hgvsp: ENST00000587152.1:c.1989G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*170G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*382G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33373
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln663Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-46120059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120059
    reference: chr 19
allele count: 1
allele frequency: 8.560617734175697e-6
allele num: 116814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.152G>A
  hgvsp: ENSP00000465994.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1375G>A
  hgvsp: ENSP00000245925.2:p.Gly459Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*657G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.466G>A
  hgvsp: ENSP00000464764.1:p.Gly156Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1978G>A
  hgvsp: ENSP00000468312.1:p.Gly660Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.556G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*371G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1816G>A
  hgvsp: ENSP00000442365.1:p.Gly606Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*159G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1375G>A
  hgvsp: ENSP00000464789.1:p.Gly459Ser
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly660Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-46120068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120068
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120068
    reference: chr 19
allele count: 1
allele frequency: 8.541460248044005e-6
allele num: 117076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.457C>T
  hgvsp: ENSP00000464764.1:p.His153Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.547C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1366C>T
  hgvsp: ENSP00000464789.1:p.His456Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1366C>T
  hgvsp: ENSP00000245925.2:p.His456Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*362C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.143C>T
  hgvsp: ENSP00000465994.1:p.His49Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1807C>T
  hgvsp: ENSP00000442365.1:p.His603Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1969C>T
  hgvsp: ENSP00000468312.1:p.His657Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*150C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*648C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His657Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-46120071-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120071
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120071
    reference: chr 19
allele count: 1
allele frequency: 8.537522410996328e-6
allele num: 117130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.454A>G
  hgvsp: ENSP00000464764.1:p.Ile152Val
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*645A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1363A>G
  hgvsp: ENSP00000245925.2:p.Ile455Val
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1966A>G
  hgvsp: ENSP00000468312.1:p.Ile656Val
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.140A>G
  hgvsp: ENSP00000465994.1:p.Ile48Val
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*11A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1363A>G
  hgvsp: ENSP00000464789.1:p.Ile455Val
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*359A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1804A>G
  hgvsp: ENSP00000442365.1:p.Ile602Val
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.544A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*147A>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33937
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile656Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-46120077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120077
    reference: chr 19
allele count: 15
allele frequency: 1.283389517274423e-4
allele num: 116878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1798G>A
  hgvsp: ENSP00000442365.1:p.Val600Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.448G>A
  hgvsp: ENSP00000464764.1:p.Val150Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1357G>A
  hgvsp: ENSP00000464789.1:p.Val453Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.538G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*639G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*141G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*353G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1357G>A
  hgvsp: ENSP00000245925.2:p.Val453Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1960G>A
  hgvsp: ENSP00000468312.1:p.Val654Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.134G>A
  hgvsp: ENSP00000465994.1:p.Val46Met
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33363
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Val654Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-46120081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120081
    reference: chr 19
allele count: 1
allele frequency: 8.577800651912849e-6
allele num: 116580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1353C>T
  hgvsp: ENST00000589876.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*137C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*349C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*635C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1956C>T
  hgvsp: ENST00000587152.1:c.1956C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1353C>T
  hgvsp: ENST00000245925.3:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1794C>T
  hgvsp: ENST00000536630.1:c.1794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.130C>T
  hgvsp: ENST00000587484.1:c.130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.444C>T
  hgvsp: ENST00000590575.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.534C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp652Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-46120081-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120081
    reference: chr 19
allele count: 1
allele frequency: 8.577800651912849e-6
allele num: 116580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.534C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*137C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1353C>G
  hgvsp: ENSP00000245925.2:p.Asp451Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.130C>G
  hgvsp: ENSP00000465994.1:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1353C>G
  hgvsp: ENSP00000464789.1:p.Asp451Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.444C>G
  hgvsp: ENSP00000464764.1:p.Asp148Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1794C>G
  hgvsp: ENSP00000442365.1:p.Asp598Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*349C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1956C>G
  hgvsp: ENSP00000468312.1:p.Asp652Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.*1C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*635C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp652Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-46120093-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120093
    reference: chr 19
allele count: 1
allele frequency: 8.686889745995344e-6
allele num: 115116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1273G>C
  hgvsp: ENSP00000468329.1:p.Gly425Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1944G>C
  hgvsp: ENST00000587152.1:c.1944G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1341G>C
  hgvsp: ENST00000245925.3:c.1341G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*623G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.522G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.118G>C
  hgvsp: ENST00000587484.1:c.118G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*337G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1782G>C
  hgvsp: ENST00000536630.1:c.1782G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.432G>C
  hgvsp: ENST00000590575.1:c.432G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*125G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1341G>C
  hgvsp: ENST00000589876.1:c.1341G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13753
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly425Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

19-46120093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120093
    reference: chr 19
allele count: 1
allele frequency: 8.686889745995344e-6
allele num: 115116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1782G>A
  hgvsp: ENST00000536630.1:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*337G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*125G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.522G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1273G>A
  hgvsp: ENSP00000468329.1:p.Gly425Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1341G>A
  hgvsp: ENST00000589876.1:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.432G>A
  hgvsp: ENST00000590575.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.118G>A
  hgvsp: ENST00000587484.1:c.118G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1944G>A
  hgvsp: ENST00000587152.1:c.1944G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1341G>A
  hgvsp: ENST00000245925.3:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*623G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly425Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-46120096-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120096
    reference: chr 19
allele count: 1
allele frequency: 8.709284096847239e-6
allele num: 114820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1338C>G
  hgvsp: ENSP00000464789.1:p.Asp446Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.115C>G
  hgvsp: ENSP00000465994.1:p.Asp39Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1338C>G
  hgvsp: ENSP00000245925.2:p.Asp446Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1270C>G
  hgvsp: ENSP00000468329.1:p.His424Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.429C>G
  hgvsp: ENSP00000464764.1:p.Asp143Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.519C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1779C>G
  hgvsp: ENSP00000442365.1:p.Asp593Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1941C>G
  hgvsp: ENSP00000468312.1:p.Asp647Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*620C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*334C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*122C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30330
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp647Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

19-46120119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120119
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120119
    reference: chr 19
allele count: 1
allele frequency: 9.266981744045964e-6
allele num: 107910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-8C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1926-8C>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-46120121-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120121
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120121
    reference: chr 19
allele count: 1
allele frequency: 9.301633366819213e-6
allele num: 107508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-10C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-10C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17866
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

19-46120125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120125
    reference: chr 19
allele count: 8
allele frequency: 7.568017557800734e-5
allele num: 105708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-14C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-14C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-46120126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120126
    reference: chr 19
allele count: 5
allele frequency: 4.748789058790009e-5
allele num: 105290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-15G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-15G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16575
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-46120129-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120129
    reference: chr 19
allele count: 1
allele frequency: 9.63094229139379e-6
allele num: 103832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-18C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-18C>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

19-46120131-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120131
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120132
    reference: chr 19
allele count: 1
allele frequency: 9.698004150745776e-6
allele num: 103114
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-21dupC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-21dupC
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

19-46120139-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120139
    reference: chr 19
allele count: 1
allele frequency: 1.005045327544272e-5
allele num: 99498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-28C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-28C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22645
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-46120143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120143
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120143
    reference: chr 19
allele count: 23
allele frequency: 2.358393831262048e-4
allele num: 97524
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-32C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-32C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22956
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-46120144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120144
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120144
    reference: chr 19
allele count: 3
allele frequency: 3.090807937194783e-5
allele num: 97062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-33C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-33C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22948
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

19-46120145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120145
    reference: chr 19
allele count: 1
allele frequency: 1.034340091021928e-5
allele num: 96680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-34C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-34C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS

19-46120145-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120145
    reference: chr 19
allele count: 2
allele frequency: 2.068680182043856e-5
allele num: 96680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-34C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-34C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22915
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-46120151-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120151
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120151
    reference: chr 19
allele count: 1
allele frequency: 1.075662070004088e-5
allele num: 92966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-40A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-40A>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

19-46120159-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120159
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120157
    reference: chr 19
allele count: 1
allele frequency: 1.1500069000414e-5
allele num: 86956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-50_1255-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-50_1323-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-50_*319-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-50_414-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-50_*107-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-50_1926-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-50_504-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-50_*605-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-50_100-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-50_1764-49delCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-50_1323-49delCT
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20326
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: CAG
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-46120159-CAGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120159
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120155
    reference: chr 19
allele count: 14
allele frequency: 1.61000966005796e-4
allele num: 86956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-52_100-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-52_1323-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-52_*605-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-52_1926-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-52_504-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-52_1255-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-52_1764-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-52_414-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-52_*107-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-52_1323-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-52_*319-49delCTCT
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11051
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20326
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: CAGAG
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-46120160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120160
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120160
    reference: chr 19
allele count: 2
allele frequency: 2.285871031156422e-5
allele num: 87494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.100-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1764-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*319-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*605-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1323-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*107-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.504-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1323-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1926-49T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.414-49T>C
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20361
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-46120838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120838
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120838
    reference: chr 19
allele count: 1
allele frequency: 8.834078340606724e-6
allele num: 113198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-727C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+50C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+50C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

19-46120838-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120838
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120838
    reference: chr 19
allele count: 2
allele frequency: 1.766815668121345e-5
allele num: 113198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-727C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+50C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+50C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-46120838-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120838
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120838
    reference: chr 19
allele count: 1
allele frequency: 8.834078340606724e-6
allele num: 113198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-727C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+50C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+50C>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

19-46120845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120845
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120845
    reference: chr 19
allele count: 1
allele frequency: 8.822543362800628e-6
allele num: 113346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+43T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-734T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+43T>C
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-46120865-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120865
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120865
    reference: chr 19
allele count: 2
allele frequency: 1.735086927855086e-5
allele num: 115268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-754G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+23G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+23G>C
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-46120865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120865
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120865
    reference: chr 19
allele count: 3
allele frequency: 2.602630391782628e-5
allele num: 115268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-754G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+23G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+23G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-46120866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120866
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120866
    reference: chr 19
allele count: 3
allele frequency: 2.597717472247718e-5
allele num: 115486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-755C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+22C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+22C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

19-46120880-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120880
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120880
    reference: chr 19
allele count: 3
allele frequency: 2.562087930857787e-5
allele num: 117092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+8T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-769T>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1925+8T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-46120886-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120886
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120886
    reference: chr 19
allele count: 459
allele frequency: 4.251338384306171e-3
allele num: 107966
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1925+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*604+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*318+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.413+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-775T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1322+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1322+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*106+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1763+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.503+2T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.99+2T>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 25846
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 3.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 15742
  bin: 2.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
hgvs: c.1925+2T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

19-46120894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120894
    reference: chr 19
allele count: 1
allele frequency: 8.401666890711118e-6
allele num: 119024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.497C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.407C>T
  hgvsp: ENSP00000464764.1:p.Thr136Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1316C>T
  hgvsp: ENSP00000245925.2:p.Thr439Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*312C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1757C>T
  hgvsp: ENSP00000442365.1:p.Thr586Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1919C>T
  hgvsp: ENSP00000468312.1:p.Thr640Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1316C>T
  hgvsp: ENSP00000464789.1:p.Thr439Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-783C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.93C>T
  hgvsp: ENSP00000465994.1:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*100C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*598C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr640Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-46120903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120903
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120903
    reference: chr 19
allele count: 1
allele frequency: 8.38940250675347e-6
allele num: 119198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.398G>A
  hgvsp: ENSP00000464764.1:p.Gly133Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*589G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*91G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.84G>A
  hgvsp: ENSP00000465994.1:p.Gly29Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1307G>A
  hgvsp: ENSP00000464789.1:p.Gly436Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1748G>A
  hgvsp: ENSP00000442365.1:p.Gly583Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1307G>A
  hgvsp: ENSP00000245925.2:p.Gly436Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-792G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1910G>A
  hgvsp: ENSP00000468312.1:p.Gly637Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*303G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.488G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly637Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-46120910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120910
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120910
    reference: chr 19
allele count: 3
allele frequency: 2.515512326010398e-5
allele num: 119260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.77G>A
  hgvsp: ENSP00000465994.1:p.Ala27Thr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1300G>A
  hgvsp: ENSP00000464789.1:p.Ala434Thr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1300G>A
  hgvsp: ENSP00000245925.2:p.Ala434Thr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.391G>A
  hgvsp: ENSP00000464764.1:p.Ala131Thr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1741G>A
  hgvsp: ENSP00000442365.1:p.Ala581Thr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.481G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1903G>A
  hgvsp: ENSP00000468312.1:p.Ala635Thr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*296G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*582G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-799G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*84G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala635Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-46120916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120916
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120916
    reference: chr 19
allele count: 3
allele frequency: 2.514964036014285e-5
allele num: 119286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1735G>A
  hgvsp: ENSP00000442365.1:p.Val579Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.475G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.385G>A
  hgvsp: ENSP00000464764.1:p.Val129Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.71G>A
  hgvsp: ENSP00000465994.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-805G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1897G>A
  hgvsp: ENSP00000468312.1:p.Val633Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*78G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*290G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1294G>A
  hgvsp: ENSP00000245925.2:p.Val432Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*576G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1294G>A
  hgvsp: ENSP00000464789.1:p.Val432Ile
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Val633Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-46120924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120924
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120924
    reference: chr 19
allele count: 1
allele frequency: 8.397433744247758e-6
allele num: 119084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.377G>A
  hgvsp: ENSP00000464764.1:p.Ser126Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1727G>A
  hgvsp: ENSP00000442365.1:p.Ser576Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.63G>A
  hgvsp: ENSP00000465994.1:p.Ser22Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1889G>A
  hgvsp: ENSP00000468312.1:p.Ser630Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1286G>A
  hgvsp: ENSP00000464789.1:p.Ser429Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.467G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*282G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-813G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*568G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1286G>A
  hgvsp: ENSP00000245925.2:p.Ser429Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*70G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser630Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum

19-46120937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120937
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120937
    reference: chr 19
allele count: 19
allele frequency: 1.612355736591989e-4
allele num: 117840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.364G>A
  hgvsp: ENSP00000464764.1:p.Gly122Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.50G>A
  hgvsp: ENSP00000465994.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*269G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1876G>A
  hgvsp: ENSP00000468312.1:p.Gly626Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.454G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*555G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.359G>A
  hgvsp: ENSP00000466100.1:p.Gly121Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1714G>A
  hgvsp: ENSP00000442365.1:p.Gly572Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*57G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-826G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1273G>A
  hgvsp: ENSP00000464789.1:p.Gly425Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1273G>A
  hgvsp: ENSP00000245925.2:p.Gly425Ser
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26070
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly626Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

19-46120938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120938
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120938
    reference: chr 19
allele count: 4
allele frequency: 3.400204012240735e-5
allele num: 117640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.453C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1272C>T
  hgvsp: ENST00000245925.3:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.358C>T
  hgvsp: ENST00000588272.1:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.49C>T
  hgvsp: ENST00000587484.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1713C>T
  hgvsp: ENST00000536630.1:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.363C>T
  hgvsp: ENST00000590575.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-827C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*56C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*554C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1272C>T
  hgvsp: ENST00000589876.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*268C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1875C>T
  hgvsp: ENST00000587152.1:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25875
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala625Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

19-46120938-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120938
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120938
    reference: chr 19
allele count: 9
allele frequency: 7.650459027541653e-5
allele num: 117640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*56C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1713C>G
  hgvsp: ENST00000536630.1:c.1713C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1875C>G
  hgvsp: ENST00000587152.1:c.1875C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1272C>G
  hgvsp: ENST00000589876.1:c.1272C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*554C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.363C>G
  hgvsp: ENST00000590575.1:c.363C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.49C>G
  hgvsp: ENST00000587484.1:c.49C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.453C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*268C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-827C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.358C>G
  hgvsp: ENST00000588272.1:c.358C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1272C>G
  hgvsp: ENST00000245925.3:c.1272C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20585
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala625Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-46120941-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120941
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120941
    reference: chr 19
allele count: 2
allele frequency: 1.702330490441414e-5
allele num: 117486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.355A>T
  hgvsp: ENST00000588272.1:c.355A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*53A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1710A>T
  hgvsp: ENST00000536630.1:c.1710A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.450A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1872A>T
  hgvsp: ENST00000587152.1:c.1872A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.360A>T
  hgvsp: ENST00000590575.1:c.360A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1269A>T
  hgvsp: ENST00000245925.3:c.1269A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*551A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1269A>T
  hgvsp: ENST00000589876.1:c.1269A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.46A>T
  hgvsp: ENST00000587484.1:c.46A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*265A>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-830A>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser624Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-46120945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120945
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120945
    reference: chr 19
allele count: 2
allele frequency: 1.711215305109689e-5
allele num: 116876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1265G>A
  hgvsp: ENSP00000245925.2:p.Arg422His
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*261G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1265G>A
  hgvsp: ENSP00000464789.1:p.Arg422His
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*547G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.446G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.356G>A
  hgvsp: ENSP00000464764.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1706G>A
  hgvsp: ENSP00000442365.1:p.Arg569His
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*49G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-834G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.351G>A
  hgvsp: ENSP00000466100.1:p.Arg118His
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1868G>A
  hgvsp: ENSP00000468312.1:p.Arg623His
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.42G>A
  hgvsp: ENSP00000465994.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg623His
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-46120946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120946
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120946
    reference: chr 19
allele count: 18
allele frequency: 1.540014715696172e-4
allele num: 116882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*260C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*546C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.355C>T
  hgvsp: ENSP00000464764.1:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1264C>T
  hgvsp: ENSP00000464789.1:p.Arg422Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.445C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1867C>T
  hgvsp: ENSP00000468312.1:p.Arg623Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1264C>T
  hgvsp: ENSP00000245925.2:p.Arg422Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*48C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.350C>T
  hgvsp: ENSP00000466100.1:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-835C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.41C>T
  hgvsp: ENSP00000465994.1:p.Arg15Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1705C>T
  hgvsp: ENSP00000442365.1:p.Arg569Cys
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20047
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg623Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-46120952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120952
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120952
    reference: chr 19
allele count: 2
allele frequency: 1.724316308583647e-5
allele num: 115988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-841C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*42C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*540C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.35C>T
  hgvsp: ENSP00000465994.1:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1861C>T
  hgvsp: ENSP00000468312.1:p.Pro621Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1258C>T
  hgvsp: ENSP00000245925.2:p.Pro420Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.349C>T
  hgvsp: ENSP00000464764.1:p.Pro117Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1699C>T
  hgvsp: ENSP00000442365.1:p.Pro567Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.439C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.344C>T
  hgvsp: ENSP00000466100.1:p.Pro116Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1258C>T
  hgvsp: ENSP00000464789.1:p.Pro420Ser
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro621Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-46120954-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120954
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120954
    reference: chr 19
allele count: 1
allele frequency: 8.638264054455616e-6
allele num: 115764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*40A>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1256A>C
  hgvsp: ENSP00000245925.2:p.Asp419Ala
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*538A>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.342A>C
  hgvsp: ENSP00000466100.1:p.Asp115Ala
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.347A>C
  hgvsp: ENSP00000464764.1:p.Asp116Ala
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1256A>C
  hgvsp: ENSP00000464789.1:p.Asp419Ala
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.33A>C
  hgvsp: ENSP00000465994.1:p.Asp12Ala
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*252A>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.437A>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1859A>C
  hgvsp: ENSP00000468312.1:p.Asp620Ala
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-843A>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1697A>C
  hgvsp: ENSP00000442365.1:p.Asp566Ala
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp620Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

19-46120955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46120955
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46120955
    reference: chr 19
allele count: 1
allele frequency: 8.651866207540966e-6
allele num: 115582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.1255-844G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000592482
  gene symbol: EML2
  hgvsc: ENST00000592482.1:n.436G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464764
  ensembl transcript: ENST00000590575
  gene symbol: EML2
  hgvsc: ENST00000590575.1:c.346G>A
  hgvsp: ENSP00000464764.1:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465994
  ensembl transcript: ENST00000587484
  gene symbol: EML2
  hgvsc: ENST00000587484.1:c.32G>A
  hgvsp: ENSP00000465994.1:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.*39G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.341G>A
  hgvsp: ENSP00000466100.1:p.Asp115Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1858G>A
  hgvsp: ENSP00000468312.1:p.Asp620Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.1255G>A
  hgvsp: ENSP00000245925.2:p.Asp419Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1696G>A
  hgvsp: ENSP00000442365.1:p.Asp566Asn
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464950
  ensembl transcript: ENST00000590819
  gene symbol: EML2
  hgvsc: ENST00000590819.1:c.*251G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.*537G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.1255G>A
  hgvsp: ENSP00000464789.1:p.Asp419Asn
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18985
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp620Asn
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 733
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4474
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6014
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6996
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.104290991759022e-5
allele num: 14076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60074
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.463e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

DP
type: SiteQuality
SIO_000300: 1.23962e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

GenotypeQuality
all individuals: 9652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9993
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 9.75e1
variant carriers: 72

GenotypeQuality
all individuals: 699
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3347
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6746
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7266
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.216589861751152e-5
allele num: 10850
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.336448598130841e-4
allele num: 8560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

South Asian
type: Population
allele count: 59
allele frequency: 4.241552839683681e-3
allele num: 13910
num of homozygotes: 1

Other
type: Population
allele count: 5
allele frequency: 6.345177664974619e-3
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.029675082989639e-5
allele num: 59646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.692e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

DP
type: SiteQuality
SIO_000300: 1.225131e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
all individuals: 253
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7276
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4520
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9010
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6927
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1884
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.255840951966333e-5
allele num: 13782
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.219465e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.714e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeQuality
all individuals: 3897
bin: 3.75e1
variant carriers: 531

GenotypeQuality
all individuals: 3126
bin: 4.75e1
variant carriers: 589

GenotypeQuality
all individuals: 1152
bin: 1.75e1
variant carriers: 210

GenotypeQuality
all individuals: 2034
bin: 5.25e1
variant carriers: 647

GenotypeQuality
all individuals: 585
bin: 9.25e1
variant carriers: 418

GenotypeQuality
all individuals: 1845
bin: 6.75e1
variant carriers: 617

GenotypeQuality
all individuals: 4058
bin: 3.25e1
variant carriers: 428

GenotypeQuality
all individuals: 937
bin: 7.5e0
variant carriers: 136

GenotypeQuality
all individuals: 808
bin: 8.25e1
variant carriers: 479

GenotypeQuality
all individuals: 973
bin: 7.75e1
variant carriers: 494

GenotypeQuality
all individuals: 741
bin: 1.25e1
variant carriers: 140

GenotypeQuality
all individuals: 1095
bin: 2.5e0
variant carriers: 78

GenotypeQuality
all individuals: 1993
bin: 4.25e1
variant carriers: 369

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 424

GenotypeQuality
all individuals: 4504
bin: 6.25e1
variant carriers: 575

GenotypeQuality
all individuals: 835
bin: 7.25e1
variant carriers: 425

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 367

GenotypeQuality
all individuals: 2530
bin: 2.75e1
variant carriers: 211

GenotypeQuality
all individuals: 5043
bin: 2.25e1
variant carriers: 302

GenotypeQuality
all individuals: 23297
bin: 9.75e1
variant carriers: 23010

European (Non-Finnish)
type: Population
allele count: 19162
allele frequency: 3.224840121171323e-1
allele num: 59420
num of homozygotes: 2851

East Asian
type: Population
allele count: 3023
allele frequency: 3.79297365119197e-1
allele num: 7970
num of homozygotes: 541

South Asian
type: Population
allele count: 4471
allele frequency: 3.182659453302961e-1
allele num: 14048
num of homozygotes: 737

African
type: Population
allele count: 1091
allele frequency: 1.257202120304217e-1
allele num: 8678
num of homozygotes: 67

Latino
type: Population
allele count: 3715
allele frequency: 3.536747905559787e-1
allele num: 10504
num of homozygotes: 624

Other
type: Population
allele count: 237
allele frequency: 2.947761194029851e-1
allele num: 804
num of homozygotes: 34

European (Finnish)
type: Population
allele count: 1683
allele frequency: 2.946428571428572e-1
allele num: 5712
num of homozygotes: 233

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.71e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

VQSLOD
type: SiteQuality
SIO_000300: 6.48e0

QD
type: SiteQuality
SIO_000300: 1.695e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.226772e6

GenotypeQuality
all individuals: 23297
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.682935038707506e-5
allele num: 59420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.226772e6

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.695e1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

GenotypeQuality
all individuals: 827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6134
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5301
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6785
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3834
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.885725061286065e-5
allele num: 53030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13936
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 2.673e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -2.358e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

DP
type: SiteQuality
SIO_000300: 1.076559e6

QD
type: SiteQuality
SIO_000300: 3.122e1

GenotypeQuality
all individuals: 765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 368
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6036
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.857562135453431e-5
allele num: 53834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.12e0

DP
type: SiteQuality
SIO_000300: 1.123395e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 1.853e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

QD
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

GenotypeQuality
all individuals: 1980
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 371
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variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 12951
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variant carriers: 0

GenotypeQuality
all individuals: 1933
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variant carriers: 0

GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 771
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variant carriers: 0

GenotypeQuality
all individuals: 5846
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5042
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7594
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12639
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variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53998
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.106310403638431e-5
allele num: 14072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.130058e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.099e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
all individuals: 1854
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5003
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
all individuals: 723
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variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12927
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7478
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.044e0

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

DP
type: SiteQuality
SIO_000300: 1.136445e6

GenotypeQuality
all individuals: 623
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4767
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4874
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6920
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 1012
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variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12786
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.833583923136162e-5
allele num: 54538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.971e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.107e1

DP
type: SiteQuality
SIO_000300: 1.16567e6

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 124

GenotypeQuality
all individuals: 423
bin: 2.5e0
variant carriers: 20

GenotypeQuality
all individuals: 906
bin: 4.25e1
variant carriers: 77

GenotypeQuality
all individuals: 2565
bin: 3.75e1
variant carriers: 99

GenotypeQuality
all individuals: 499
bin: 5.75e1
variant carriers: 106

GenotypeQuality
all individuals: 3984
bin: 3.25e1
variant carriers: 70

GenotypeQuality
all individuals: 365
bin: 1.75e1
variant carriers: 37

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 129

GenotypeQuality
all individuals: 918
bin: 5.25e1
variant carriers: 127

GenotypeQuality
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bin: 2.25e1
variant carriers: 51

GenotypeQuality
all individuals: 242
bin: 1.25e1
variant carriers: 18

GenotypeQuality
all individuals: 351
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variant carriers: 22

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 126

GenotypeQuality
all individuals: 3042
bin: 2.75e1
variant carriers: 48

GenotypeQuality
all individuals: 1009
bin: 4.75e1
variant carriers: 121

GenotypeQuality
all individuals: 771
bin: 7.25e1
variant carriers: 98

GenotypeQuality
all individuals: 15055
bin: 9.75e1
variant carriers: 12853

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 130

GenotypeQuality
all individuals: 16901
bin: 6.25e1
variant carriers: 152

GenotypeQuality
all individuals: 2290
bin: 6.75e1
variant carriers: 122

Other
type: Population
allele count: 114
allele frequency: 1.496062992125984e-1
allele num: 762
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 8022
allele frequency: 1.38515730220672e-1
allele num: 57914
num of homozygotes: 433

African
type: Population
allele count: 998
allele frequency: 1.148975362652544e-1
allele num: 8686
num of homozygotes: 49

South Asian
type: Population
allele count: 2425
allele frequency: 1.640952767627555e-1
allele num: 14778
num of homozygotes: 224

Latino
type: Population
allele count: 707
allele frequency: 7.848579040852575e-2
allele num: 9008
num of homozygotes: 35

East Asian
type: Population
allele count: 1861
allele frequency: 2.502689618074234e-1
allele num: 7436
num of homozygotes: 193

European (Finnish)
type: Population
allele count: 893
allele frequency: 1.717968449403617e-1
allele num: 5198
num of homozygotes: 52

BaseQRankSum
type: SiteQuality
SIO_000300: -2.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.33955e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 1.409e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeQuality
all individuals: 252
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 1139
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variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
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GenotypeQuality
all individuals: 2927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3846
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.678471919164792e-5
allele num: 59578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.321524e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -4.093e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

FS
type: SiteQuality
SIO_000300: 6.607e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
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GenotypeQuality
all individuals: 955
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GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 2751
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GenotypeQuality
all individuals: 1147
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GenotypeQuality
all individuals: 816
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variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 1.114330287497214e-4
allele num: 8974
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.66461364317342e-5
allele num: 60074
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 3.45e-1

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

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

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

InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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SIO_000300: -1.709e0

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

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

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

African
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allele count: 1
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allele num: 9098
num of homozygotes: 0

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

Other
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 2.929e0

MQ
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QD
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SIO_000300: 1.373e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

East Asian
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allele frequency: 1.242236024844721e-4
allele num: 8050
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Latino
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.569563033651432e-5
allele num: 63712
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FS
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MQ
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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SIO_000300: 1.56e0

ClippingRankSum
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SIO_000300: -1.255e0

BaseQRankSum
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

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

South Asian
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allele frequency: 6.336332530731213e-5
allele num: 15782
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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VQSLOD
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.549666821633349e-5
allele num: 64530
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.546790409899459e-5
allele num: 64650
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Other
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.545977366891349e-5
allele num: 64684
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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African
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allele count: 0
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Latino
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South Asian
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FS
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

African
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 64572
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Other
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Latino
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FS
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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South Asian
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allele frequency: 6.298815822625347e-5
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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Other
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VQSLOD
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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African
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: 5.0e-4

MQ
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SIO_000300: 5.956e1

QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Other
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East Asian
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 1.199904007679386e-4
allele num: 8334
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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Other
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num of homozygotes: 0

InbreedingCoeff
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DP
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VQSLOD
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QD
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 2.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

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

European (Non-Finnish)
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Other
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African
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Latino
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 14698
num of homozygotes: 0

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

Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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ReadPosRankSum
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DP
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 9.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 569
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
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GenotypeQuality
all individuals: 663
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GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16101
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variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57844
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.141291942478886e-4
allele num: 8762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 1.775e0

QD
type: SiteQuality
SIO_000300: 1.564e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.19308e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 362
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GenotypeQuality
all individuals: 3017
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.924248719013987e-5
allele num: 14442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.998e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 7.38e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

FS
type: SiteQuality
SIO_000300: 1.1905e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.799337843673528e-5
allele num: 55576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

VQSLOD
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SIO_000300: -1.612e0

QD
type: SiteQuality
SIO_000300: 1.156e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

DP
type: SiteQuality
SIO_000300: 1.100223e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 7.281e0

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 668
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13782
num of homozygotes: 0

East Asian
type: Population
allele count: 23
allele frequency: 3.358644859813084e-3
allele num: 6848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 1.0728e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

FS
type: SiteQuality
SIO_000300: 5.727e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 1122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8063
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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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
all individuals: 1661
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variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.936857562408223e-4
allele num: 6810
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 7.285443683520327e-5
allele num: 13726
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.026e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.369e0

QD
type: SiteQuality
SIO_000300: 2.062e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.847882326853426e-5
allele num: 54116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6756
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13692
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

ReadPosRankSum
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SIO_000300: 1.36e0

ClippingRankSum
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SIO_000300: 1.95e0

BaseQRankSum
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 5.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.695764653706852e-5
allele num: 54116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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BaseQRankSum
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SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.060232e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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East Asian
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Latino
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 2.729257641921397e-4
allele num: 7328
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 1.88291680931188e-3
allele num: 5842
num of homozygotes: 0

Other
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num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

South Asian
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allele frequency: 1.549426712116517e-4
allele num: 12908
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9864
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele num: 14638
num of homozygotes: 0

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

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

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

Other
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allele num: 820
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African
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East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 10562
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

MQRankSum
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SIO_000300: -4.6e-1

InbreedingCoeff
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SIO_000300: -1.8e-3

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.121e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.129e0

QD
type: SiteQuality
SIO_000300: 1.025e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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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: 8310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56162158785683e-5
allele num: 64036
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 9.186110600771634e-5
allele num: 10886
num of homozygotes: 0

QD
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SIO_000300: 1.304e1

ReadPosRankSum
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SIO_000300: -7.8e-2

FS
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SIO_000300: 9.409999999999999e-1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

DP
type: SiteQuality
SIO_000300: 1.423412e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.610108303249097e-4
allele num: 8310
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64036
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 9.409999999999999e-1

BaseQRankSum
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SIO_000300: -2.239e0

DP
type: SiteQuality
SIO_000300: 1.423412e6

QD
type: SiteQuality
SIO_000300: 1.304e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.937e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2069
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variant carriers: 3

GenotypeQuality
all individuals: 1764
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.678435531158381e-5
allele num: 64124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15118
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.901e1

VQSLOD
type: SiteQuality
SIO_000300: -6.066e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.264e0

DP
type: SiteQuality
SIO_000300: 1.433361e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 1.566e0

GenotypeDepth
all individuals: 31
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1904
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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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 474
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variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.627772807206985e-5
allele num: 64826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 3.235e0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

DP
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SIO_000300: 1.479562e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
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SIO_000300: 9.380000000000001e0

GenotypeQuality
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variant carriers: 49

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 49

GenotypeQuality
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bin: 9.75e1
variant carriers: 53

Latino
type: Population
allele count: 35
allele frequency: 3.480509148766905e-3
allele num: 10056
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.895775759968417e-4
allele num: 15198
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.90625e-3
allele num: 768
num of homozygotes: 0

European (Non-Finnish)
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allele count: 168
allele frequency: 2.783853648836747e-3
allele num: 60348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 95
allele frequency: 1.944330740892345e-2
allele num: 4886
num of homozygotes: 0

African
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allele count: 96
allele frequency: 1.093394077448747e-2
allele num: 8780
num of homozygotes: 0

East Asian
type: Population
allele count: 50
allele frequency: 6.305170239596469e-3
allele num: 7930
num of homozygotes: 0

InbreedingCoeff
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 2.72e0

MQRankSum
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SIO_000300: 1.58e-1

FS
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SIO_000300: 3.37439e2

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
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SIO_000300: -2.385e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523647001462701e-5
allele num: 65632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.536582e6

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: 5.46e-1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.83477576711251e-5
allele num: 10168
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.541608e6

VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.563570537588609e-5
allele num: 65738
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

DP
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SIO_000300: 1.544247e6

MQRankSum
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SIO_000300: 5.42e-1

BaseQRankSum
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SIO_000300: -7.3e-1

FS
type: SiteQuality
SIO_000300: 2.533e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.025e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16072
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.042102701387199e-5
allele num: 65744
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.844457570387872e-5
allele num: 10158
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
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SIO_000300: 8.204000000000001e0

MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 9.99e0

BaseQRankSum
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SIO_000300: -2.277e0

MQRankSum
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SIO_000300: 1.01e0

InbreedingCoeff
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SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.325e-1

DP
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SIO_000300: 1.544266e6

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.865824782951855e-5
allele num: 10136
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65678
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -6.840000000000001e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.921e0

InbreedingCoeff
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SIO_000300: -4.0e-4

VQSLOD
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DP
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SIO_000300: 1.540159e6

QD
type: SiteQuality
SIO_000300: 2.688e1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 19

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.335529650278763e-5
allele num: 15784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.602050624799744e-4
allele num: 6242
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
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allele count: 15
allele frequency: 2.303227589595553e-4
allele num: 65126
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.989258006763477e-4
allele num: 10054
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.954e1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
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SIO_000300: 2.36e0

DP
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SIO_000300: 1.515752e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65034
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.364066193853428e-4
allele num: 8460
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.345982992765579e-5
allele num: 15758
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.884150675195451e-5
allele num: 11256
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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South Asian
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allele count: 9
allele frequency: 5.711384693489022e-4
allele num: 15758
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

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

European (Finnish)
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.078343851008158e-5
allele num: 64970
num of homozygotes: 0

Other
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East Asian
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FS
type: SiteQuality
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.506395e6

MQRankSum
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SIO_000300: -7.3e-2

QD
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ClippingRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 64712
num of homozygotes: 0

African
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allele num: 9990
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.398e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
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SIO_000300: -9.0e-4

MQRankSum
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FS
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SIO_000300: 5.46e-1

VQSLOD
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BaseQRankSum
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SIO_000300: -2.32e-1

ClippingRankSum
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SIO_000300: -1.421e0

ReadPosRankSum
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SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.493007e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 64706
num of homozygotes: 0

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

South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 1.203e0

DP
type: SiteQuality
SIO_000300: 1.491937e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9914
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.557583875891717e-5
allele num: 64202
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0