19-46131976-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46131976
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46131976
    reference: chr 19
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+1233C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+1233C>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.606+1233C>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.606+1233C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+1233C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+1233C>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: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.*9C>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.1080+1233C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.154-1879C>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.1047+1233C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+1233C>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.1209+1233C>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.606+1233C>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+1233C>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.326+1233C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

19-46132082-A-AAAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46132082
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46132086
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: AAAGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.606+1123_606+1126dupACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.154-1989_154-1986dupACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+1123_627+1126dupACTT
  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.1209+1123_1209+1126dupACTT
  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.606+1123_606+1126dupACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+1123_238+1126dupACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+1123_540+1126dupACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+1123_82+1126dupACTT
  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.326+1123_326+1126dupACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+1123_238+1126dupACTT
  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.1047+1123_1047+1126dupACTT
  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.1080+1123_1080+1126dupACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+1123_631+1126dupACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.208-33_208-30dupACTT
  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.606+1123_606+1126dupACTT
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-46132082-A-AAAGTAAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46132082
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46132090
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: AAAGTAAGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  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: 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: 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: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000586902
  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: ENST00000588000
  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: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  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: ENSP00000468383
  ensembl transcript: ENST00000592853
  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: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  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: ENST00000590580
  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
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-46132082-AAAGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46132082
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46132078
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2
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.1047+1123_1047+1126delACTT
  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.1209+1123_1209+1126delACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+1123_631+1126delACTT
  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.606+1123_606+1126delACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.154-1989_154-1986delACTT
  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.326+1123_326+1126delACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+1123_627+1126delACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+1123_540+1126delACTT
  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.606+1123_606+1126delACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+1123_238+1126delACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+1123_238+1126delACTT
  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.606+1123_606+1126delACTT
  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.1080+1123_1080+1126delACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.208-33_208-30delACTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+1123_82+1126delACTT
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: AAAGT
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-46132085-G-GTAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46132085
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46132089
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: GTAAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1209+1123_1209+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+1123_82+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+1123_238+1124insTTTA
  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.1047+1123_1047+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.154-1989_154-1988insTTTA
  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.326+1123_326+1124insTTTA
  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.606+1123_606+1124insTTTA
  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.606+1123_606+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+1123_540+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.208-33_208-32insTTTA
  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.606+1123_606+1124insTTTA
  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.1080+1123_1080+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+1123_627+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+1123_631+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+1123_238+1124insTTTA
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-46132089-G-GTAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46132089
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46132092
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: GTAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.154-1995_154-1993dupTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+1117_82+1119dupTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+1117_238+1119dupTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+1117_631+1119dupTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+1117_540+1119dupTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.208-39_208-37dupTTA
  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.1080+1117_1080+1119dupTTA
  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.326+1117_326+1119dupTTA
  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.1047+1117_1047+1119dupTTA
  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.606+1117_606+1119dupTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+1117_238+1119dupTTA
  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.606+1117_606+1119dupTTA
  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.606+1117_606+1119dupTTA
  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.1209+1117_1209+1119dupTTA
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+1117_627+1119dupTTA
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-46133167-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133167
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133167
    reference: chr 19
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+42T>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.606+42T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+42T>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.606+42T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+42T>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+42T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2952T>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.1080+42T>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+42T>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+42T>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.1047+42T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+42T>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.606+42T>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.326+42T>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.1209+42T>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

19-46133176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133176
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133176
    reference: chr 19
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+33G>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.1209+33G>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.606+33G>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.1080+33G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+33G>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.326+33G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2943G>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+33G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+33G>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.1047+33G>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.606+33G>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+33G>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+33G>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.606+33G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+33G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

19-46133178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133178
    reference: chr 19
allele count: 2
allele frequency: 1.654232353476369e-5
allele num: 120902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.606+31G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+31G>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.1047+31G>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.326+31G>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+31G>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+31G>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.606+31G>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+31G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2941G>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.1209+31G>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.1080+31G>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.606+31G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+31G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+31G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+31G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14476
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  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: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-46133186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133186
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133186
    reference: chr 19
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2933C>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.1209+23C>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.606+23C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+23C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+23C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+23C>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.606+23C>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.1080+23C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+23C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+23C>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+23C>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.326+23C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+23C>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.1047+23C>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.606+23C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-46133188-GGATGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133188
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133183
    reference: chr 19
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+16_82+20delTCATC
  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.606+16_606+20delTCATC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+16_207+20delTCATC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+16_540+20delTCATC
  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.326+16_326+20delTCATC
  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.1209+16_1209+20delTCATC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2926_153+2930delTCATC
  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.606+16_606+20delTCATC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+16_627+20delTCATC
  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.1047+16_1047+20delTCATC
  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.606+16_606+20delTCATC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+16_238+20delTCATC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+16_238+20delTCATC
  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.1080+16_1080+20delTCATC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+16_631+20delTCATC
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: GGATGA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-46133189-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133189
    reference: chr 19
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+20C>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.606+20C>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.606+20C>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.1047+20C>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.606+20C>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.1080+20C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+20C>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+20C>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.1209+20C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+20C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+20C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+20C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2930C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+20C>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.326+20C>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

19-46133196-A-AAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133199
    reference: chr 19
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: AAAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+10_631+12dupCTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+10_627+12dupCTT
  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.606+10_606+12dupCTT
  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.1047+10_1047+12dupCTT
  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.326+10_326+12dupCTT
  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.1209+10_1209+12dupCTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+10_82+12dupCTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+10_207+12dupCTT
  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.1080+10_1080+12dupCTT
  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.606+10_606+12dupCTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2920_153+2922dupCTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+10_238+12dupCTT
  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.606+10_606+12dupCTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+10_540+12dupCTT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+10_238+12dupCTT
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-46133198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133198
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133198
    reference: chr 19
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
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.326+11T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2921T>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+11T>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.1047+11T>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.606+11T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+11T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+11T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+11T>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+11T>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.606+11T>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.606+11T>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.1209+11T>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+11T>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.1080+11T>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+11T>C
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

19-46133199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133199
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133199
    reference: chr 19
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
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.606+10C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.631+10C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.238+10C>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.1080+10C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.540+10C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2920C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.82+10C>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.606+10C>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.326+10C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.207+10C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.627+10C>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.1047+10C>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.606+10C>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.238+10C>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.1209+10C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-46133214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133214
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133214
    reference: chr 19
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.601G>A
  hgvsp: ENSP00000464789.1:p.Val201Ile
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.626G>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.1042G>A
  hgvsp: ENSP00000442365.1:p.Val348Ile
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.233G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.321G>A
  hgvsp: ENSP00000465339.1:p.Met107Ile
  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.601G>A
  hgvsp: ENSP00000468329.1:p.Val201Ile
  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.77G>A
  hgvsp: ENSP00000466100.1:p.Val27Ile
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.233G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.202G>A
  hgvsp: ENSP00000468383.1:p.Val68Ile
  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.1204G>A
  hgvsp: ENSP00000468312.1:p.Val402Ile
  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.601G>A
  hgvsp: ENSP00000245925.2:p.Val201Ile
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.622G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1075G>A
  hgvsp: ENSP00000382503.3:p.Val359Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.535G>A
  hgvsp: ENSP00000465786.1:p.Val179Ile
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2905G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val402Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-46133223-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133223
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133223
    reference: chr 19
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.68G>T
  hgvsp: ENSP00000466100.1:p.Val24Leu
  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.1033G>T
  hgvsp: ENSP00000442365.1:p.Val345Leu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.312G>T
  hgvsp: ENSP00000465339.1:p.Arg104Ser
  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.592G>T
  hgvsp: ENSP00000245925.2:p.Val198Leu
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.617G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.526G>T
  hgvsp: ENSP00000465786.1:p.Val176Leu
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.224G>T
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.613G>T
  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.592G>T
  hgvsp: ENSP00000468329.1:p.Val198Leu
  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.592G>T
  hgvsp: ENSP00000464789.1:p.Val198Leu
  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.1195G>T
  hgvsp: ENSP00000468312.1:p.Val399Leu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.193G>T
  hgvsp: ENSP00000468383.1:p.Val65Leu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1066G>T
  hgvsp: ENSP00000382503.3:p.Val356Leu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2896G>T
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.536G>T
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.224G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val399Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

19-46133239-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133239
    reference: chr 19
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.52G>C
  hgvsp: ENSP00000466100.1:p.Trp18Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2880G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.296G>C
  hgvsp: ENSP00000465339.1:p.Gly99Ala
  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.576G>C
  hgvsp: ENSP00000468329.1:p.Trp192Cys
  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.1017G>C
  hgvsp: ENSP00000442365.1:p.Trp339Cys
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.601G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.177G>C
  hgvsp: ENSP00000468383.1:p.Trp59Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1050G>C
  hgvsp: ENSP00000382503.3:p.Trp350Cys
  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.576G>C
  hgvsp: ENSP00000464789.1:p.Trp192Cys
  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.576G>C
  hgvsp: ENSP00000245925.2:p.Trp192Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.510G>C
  hgvsp: ENSP00000465786.1:p.Trp170Cys
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.597G>C
  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.1179G>C
  hgvsp: ENSP00000468312.1:p.Trp393Cys
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.208G>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.208G>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.520G>C
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp393Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-46133245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133245
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133245
    reference: chr 19
allele count: 5
allele frequency: 4.120652711389484e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.595G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.591G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.570G>A
  hgvsp: ENSP00000468329.1:p.Trp190Ter
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.202G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.570G>A
  hgvsp: ENSP00000464789.1:p.Trp190Ter
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.202G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.570G>A
  hgvsp: ENSP00000245925.2:p.Trp190Ter
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.514G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.171G>A
  hgvsp: ENSP00000468383.1:p.Trp57Ter
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.1011G>A
  hgvsp: ENSP00000442365.1:p.Trp337Ter
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2874G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.504G>A
  hgvsp: ENSP00000465786.1:p.Trp168Ter
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.290G>A
  hgvsp: ENSP00000465339.1:p.Gly97Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.46G>A
  hgvsp: ENSP00000466100.1:p.Trp16Ter
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1173G>A
  hgvsp: ENSP00000468312.1:p.Trp391Ter
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1044G>A
  hgvsp: ENSP00000382503.3:p.Trp348Ter
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp391Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

19-46133248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133248
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133248
    reference: chr 19
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.287G>A
  hgvsp: ENSP00000465339.1:p.Cys96Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1041G>A
  hgvsp: ENST00000399594.3:c.1041G>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.592G>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.511G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.501G>A
  hgvsp: ENST00000586770.1:c.501G>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.199G>A
  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.567G>A
  hgvsp: ENST00000589876.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2871G>A
  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.1008G>A
  hgvsp: ENST00000536630.1:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.567G>A
  hgvsp: ENST00000588308.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.168G>A
  hgvsp: ENST00000592853.1:c.168G>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.567G>A
  hgvsp: ENST00000245925.3:c.567G>A(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.43G>A
  hgvsp: ENST00000588272.1:c.43G>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.199G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.588G>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.1170G>A
  hgvsp: ENST00000587152.1:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys96Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

19-46133251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133251
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133251
    reference: chr 19
allele count: 15072
allele frequency: 1.242805547767865e-1
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.585G>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.196G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.498G>A
  hgvsp: ENST00000586770.1:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.284G>A
  hgvsp: ENSP00000465339.1:p.Arg95Gln
  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.40G>A
  hgvsp: ENST00000588272.1:c.40G>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.508G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.165G>A
  hgvsp: ENST00000592853.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.564G>A
  hgvsp: ENST00000588308.1:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1038G>A
  hgvsp: ENST00000399594.3:c.1038G>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.1167G>A
  hgvsp: ENST00000587152.1:c.1167G>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.564G>A
  hgvsp: ENST00000245925.3:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2868G>A
  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.564G>A
  hgvsp: ENST00000589876.1:c.564G>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.589G>A
  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.1005G>A
  hgvsp: ENST00000536630.1:c.1005G>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.196G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 699
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.75e1
  variant carriers: 1062
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 656
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.25e1
  variant carriers: 374
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 917
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 5.75e1
  variant carriers: 1016
genotype quality: GenotypeQuality
hgvs: p.Arg95Gln
num of homozygotes: 973
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

19-46133256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133256
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133256
    reference: chr 19
allele count: 15211
allele frequency: 1.254308567658943e-1
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.580C>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.1162C>T
  hgvsp: ENSP00000468312.1:p.Leu388Phe
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.160C>T
  hgvsp: ENSP00000468383.1:p.Leu54Phe
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.191C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.493C>T
  hgvsp: ENSP00000465786.1:p.Leu165Phe
  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.559C>T
  hgvsp: ENSP00000245925.2:p.Leu187Phe
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1033C>T
  hgvsp: ENSP00000382503.3:p.Leu345Phe
  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.1000C>T
  hgvsp: ENSP00000442365.1:p.Leu334Phe
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.503C>T
  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.559C>T
  hgvsp: ENSP00000468329.1:p.Leu187Phe
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.584C>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.35C>T
  hgvsp: ENSP00000466100.1:p.Leu13Phe
  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.559C>T
  hgvsp: ENSP00000464789.1:p.Leu187Phe
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.191C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.279C>T
  hgvsp: ENST00000586195.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2863C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.75e1
  variant carriers: 573
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 529
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 1036
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.25e1
  variant carriers: 1148
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.75e1
  variant carriers: 953
genotype quality: GenotypeQuality
hgvs: p.Leu388Phe
num of homozygotes: 996
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-46133258-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133258
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133258
    reference: chr 19
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.189T>G
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.582T>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.557T>G
  hgvsp: ENSP00000245925.2:p.Met186Arg
  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.557T>G
  hgvsp: ENSP00000464789.1:p.Met186Arg
  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.998T>G
  hgvsp: ENSP00000442365.1:p.Met333Arg
  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.557T>G
  hgvsp: ENSP00000468329.1:p.Met186Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.491T>G
  hgvsp: ENSP00000465786.1:p.Met164Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.277T>G
  hgvsp: ENSP00000465339.1:p.Cys93Gly
  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.33T>G
  hgvsp: ENSP00000466100.1:p.Met12Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1031T>G
  hgvsp: ENSP00000382503.3:p.Met344Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2861T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.158T>G
  hgvsp: ENSP00000468383.1:p.Met53Arg
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.189T>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.1160T>G
  hgvsp: ENSP00000468312.1:p.Met387Arg
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.578T>G
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.501T>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met387Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

19-46133258-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133258
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133258
    reference: chr 19
allele count: 5
allele frequency: 4.123439278233189e-5
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.557T>A
  hgvsp: ENSP00000464789.1:p.Met186Lys
  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.33T>A
  hgvsp: ENSP00000466100.1:p.Met12Lys
  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.557T>A
  hgvsp: ENSP00000468329.1:p.Met186Lys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.277T>A
  hgvsp: ENSP00000465339.1:p.Cys93Ser
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.189T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2861T>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.158T>A
  hgvsp: ENSP00000468383.1:p.Met53Lys
  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.998T>A
  hgvsp: ENSP00000442365.1:p.Met333Lys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1031T>A
  hgvsp: ENSP00000382503.3:p.Met344Lys
  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.1160T>A
  hgvsp: ENSP00000468312.1:p.Met387Lys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.491T>A
  hgvsp: ENSP00000465786.1:p.Met164Lys
  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.557T>A
  hgvsp: ENSP00000245925.2:p.Met186Lys
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.578T>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.189T>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.582T>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.501T>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met387Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

19-46133266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133266
    reference: chr 19
allele count: 3
allele frequency: 2.47520667975776e-5
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2853T>C
  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.1152T>C
  hgvsp: ENST00000587152.1:c.1152T>C(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.25T>C
  hgvsp: ENST00000588272.1:c.25T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.150T>C
  hgvsp: ENST00000592853.1:c.150T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.483T>C
  hgvsp: ENST00000586770.1:c.483T>C(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.990T>C
  hgvsp: ENST00000536630.1:c.990T>C(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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.570T>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.574T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1023T>C
  hgvsp: ENST00000399594.3:c.1023T>C(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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.181T>C
  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.549T>C
  hgvsp: ENST00000245925.3:c.549T>C(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.549T>C
  hgvsp: ENST00000589876.1:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.269T>C
  hgvsp: ENSP00000465339.1:p.Met90Thr
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.181T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.549T>C
  hgvsp: ENST00000588308.1:c.549T>C(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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.493T>C
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met90Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-46133267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133267
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133267
    reference: chr 19
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.569A>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.1151A>G
  hgvsp: ENSP00000468312.1:p.Asn384Ser
  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.548A>G
  hgvsp: ENSP00000464789.1:p.Asn183Ser
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.180A>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.548A>G
  hgvsp: ENSP00000245925.2:p.Asn183Ser
  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.989A>G
  hgvsp: ENSP00000442365.1:p.Asn330Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.268A>G
  hgvsp: ENSP00000465339.1:p.Met90Val
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.149A>G
  hgvsp: ENSP00000468383.1:p.Asn50Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.482A>G
  hgvsp: ENSP00000465786.1:p.Asn161Ser
  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.548A>G
  hgvsp: ENSP00000468329.1:p.Asn183Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1022A>G
  hgvsp: ENSP00000382503.3:p.Asn341Ser
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.492A>G
  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.24A>G
  hgvsp: ENSP00000466100.1:p.Asn9Ser
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.573A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2852A>G
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.180A>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn384Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-46133270-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133270
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133270
    reference: chr 19
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2849C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.265C>A
  hgvsp: ENSP00000465339.1:p.Pro89Thr
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.489C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.566C>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.986C>A
  hgvsp: ENSP00000442365.1:p.Ser329Tyr
  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.545C>A
  hgvsp: ENSP00000468329.1:p.Ser182Tyr
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.177C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1019C>A
  hgvsp: ENSP00000382503.3:p.Ser340Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.146C>A
  hgvsp: ENSP00000468383.1:p.Ser49Tyr
  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.21C>A
  hgvsp: ENSP00000466100.1:p.Ser8Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.479C>A
  hgvsp: ENSP00000465786.1:p.Ser160Tyr
  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.545C>A
  hgvsp: ENSP00000464789.1:p.Ser182Tyr
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.570C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.177C>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.545C>A
  hgvsp: ENSP00000245925.2:p.Ser182Tyr
  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.1148C>A
  hgvsp: ENSP00000468312.1:p.Ser383Tyr
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser383Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-46133275-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133275
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133275
    reference: chr 19
allele count: 2
allele frequency: 1.65169133192389e-5
allele num: 121088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.16T>G
  hgvsp: ENSP00000466100.1:p.Asp6Glu
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.561T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.141T>G
  hgvsp: ENSP00000468383.1:p.Asp47Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.474T>G
  hgvsp: ENSP00000465786.1:p.Asp158Glu
  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.981T>G
  hgvsp: ENSP00000442365.1:p.Asp327Glu
  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.1143T>G
  hgvsp: ENSP00000468312.1:p.Asp381Glu
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.484T>G
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.172T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1014T>G
  hgvsp: ENSP00000382503.3:p.Asp338Glu
  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.540T>G
  hgvsp: ENSP00000245925.2:p.Asp180Glu
  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.540T>G
  hgvsp: ENSP00000468329.1:p.Asp180Glu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.260T>G
  hgvsp: ENSP00000465339.1:p.Met87Arg
  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.540T>G
  hgvsp: ENSP00000464789.1:p.Asp180Glu
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.565T>G
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.172T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2844T>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp381Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-46133279-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133279
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133279
    reference: chr 19
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.256T>C
  hgvsp: ENSP00000465339.1:p.Trp86Arg
  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.12T>C
  hgvsp: ENSP00000466100.1:p.Val5Ala
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.137T>C
  hgvsp: ENSP00000468383.1:p.Val46Ala
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.168T>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.168T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.1010T>C
  hgvsp: ENSP00000382503.3:p.Val337Ala
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.561T>C
  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.977T>C
  hgvsp: ENSP00000442365.1:p.Val326Ala
  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.536T>C
  hgvsp: ENSP00000245925.2:p.Val179Ala
  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.536T>C
  hgvsp: ENSP00000468329.1:p.Val179Ala
  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.1139T>C
  hgvsp: ENSP00000468312.1:p.Val380Ala
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.557T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.470T>C
  hgvsp: ENSP00000465786.1:p.Val157Ala
  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.536T>C
  hgvsp: ENSP00000464789.1:p.Val179Ala
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.480T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2840T>C
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val380Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-46133290-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133290
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133290
    reference: chr 19
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.126G>C
  hgvsp: ENST00000592853.1:c.126G>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.525G>C
  hgvsp: ENST00000245925.3:c.525G>C(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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.157G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.525G>C
  hgvsp: ENST00000588308.1:c.525G>C(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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.157G>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.469G>C
  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.1128G>C
  hgvsp: ENST00000587152.1:c.1128G>C(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.525G>C
  hgvsp: ENST00000589876.1:c.525G>C(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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.546G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2829G>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.245G>C
  hgvsp: ENSP00000465339.1:p.Cys82Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.459G>C
  hgvsp: ENST00000586770.1:c.459G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.999G>C
  hgvsp: ENST00000399594.3:c.999G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000466100
  ensembl transcript: ENST00000588272
  gene symbol: EML2
  hgvsc: ENST00000588272.1:c.1G>C
  hgvsp: ENST00000588272.1:c.1G>C(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.966G>C
  hgvsp: ENST00000536630.1:c.966G>C(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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.550G>C
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys82Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

19-46133293-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133293
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133293
    reference: chr 19
allele count: 2
allele frequency: 1.660798511924533e-5
allele num: 120424
alternate allele: T
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.522C>A
  hgvsp: ENSP00000468329.1:p.Asn174Lys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.123C>A
  hgvsp: ENSP00000468383.1:p.Asn41Lys
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.154C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.543C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.466C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2826C>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.522C>A
  hgvsp: ENSP00000245925.2:p.Asn174Lys
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.154C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.456C>A
  hgvsp: ENSP00000465786.1:p.Asn152Lys
  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.522C>A
  hgvsp: ENSP00000464789.1:p.Asn174Lys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.996C>A
  hgvsp: ENSP00000382503.3:p.Asn332Lys
  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.1125C>A
  hgvsp: ENSP00000468312.1:p.Asn375Lys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.242C>A
  hgvsp: ENSP00000465339.1:p.Thr81Asn
  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.963C>A
  hgvsp: ENSP00000442365.1:p.Asn321Lys
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.547C>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn375Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

19-46133298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133298
    reference: chr 19
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
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.517G>A
  hgvsp: ENSP00000245925.2:p.Gly173Ser
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.542G>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.958G>A
  hgvsp: ENSP00000442365.1:p.Gly320Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.237G>A
  hgvsp: ENST00000586195.1:c.237G>A(p.%3D)
  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.517G>A
  hgvsp: ENSP00000468329.1:p.Gly173Ser
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.149G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.451G>A
  hgvsp: ENSP00000465786.1:p.Gly151Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.118G>A
  hgvsp: ENSP00000468383.1:p.Gly40Ser
  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.517G>A
  hgvsp: ENSP00000464789.1:p.Gly173Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.991G>A
  hgvsp: ENSP00000382503.3:p.Gly331Ser
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.461G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.538G>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.1120G>A
  hgvsp: ENSP00000468312.1:p.Gly374Ser
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.149G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2821G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly374Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

19-46133302-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133302
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133302
    reference: chr 19
allele count: 1
allele frequency: 8.357430591538938e-6
allele num: 119654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.538T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_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.233T>C
  hgvsp: ENSP00000465339.1:p.Met78Thr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.513T>C
  hgvsp: ENST00000245925.3:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1116T>C
  hgvsp: ENST00000587152.1:c.1116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2817T>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.145T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.513T>C
  hgvsp: ENST00000588308.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.447T>C
  hgvsp: ENST00000586770.1:c.447T>C(p.%3D)
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.145T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000442365
  ensembl transcript: ENST00000536630
  gene symbol: EML2
  hgvsc: ENST00000536630.1:c.954T>C
  hgvsp: ENST00000536630.1:c.954T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_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.987T>C
  hgvsp: ENST00000399594.3:c.987T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.114T>C
  hgvsp: ENST00000592853.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.513T>C
  hgvsp: ENST00000589876.1:c.513T>C(p.%3D)
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.534T>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.457T>C
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met78Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

19-46133309-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133309
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133306
    reference: chr 19
allele count: 2
allele frequency: 1.702272533832667e-5
allele num: 117490
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.985-8_985-6delCTC
  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.511-8_511-6delCTC
  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: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.112-8_112-6delCTC
  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.952-8_952-6delCTC
  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.511-8_511-6delCTC
  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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.143-8_143-6delCTC
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.536-8_536-6delCTC
  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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.143-8_143-6delCTC
  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.1114-8_1114-6delCTC
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.455-8_455-6delCTC
  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.511-8_511-6delCTC
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.532-8_532-6delCTC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.445-8_445-6delCTC
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2807_153+2809delCTC
  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.231-8_231-6delCTC
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1114-8_1114-6delCTC
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AGAG
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-46133312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133312
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133312
    reference: chr 19
allele count: 1
allele frequency: 8.513391564931637e-6
allele num: 117462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.143-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2807C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.536-8C>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.511-8C>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.511-8C>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.231-8C>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: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.112-8C>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.1114-8C>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.952-8C>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.511-8C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.445-8C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.143-8C>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: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.985-8C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.532-8C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.455-8C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1114-8C>T
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-46133316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133316
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133316
    reference: chr 19
allele count: 2
allele frequency: 1.702939273185518e-5
allele num: 117444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2803C>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.511-12C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.536-12C>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.985-12C>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.231-12C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.143-12C>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.1114-12C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.445-12C>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.952-12C>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.143-12C>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.511-12C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.455-12C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.112-12C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.532-12C>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.511-12C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23588
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

19-46133318-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133318
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133318
    reference: chr 19
allele count: 1
allele frequency: 8.546132020647455e-6
allele num: 117012
alternate allele: C
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.985-14C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.532-14C>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.952-14C>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.231-14C>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.511-14C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.455-14C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2801C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.445-14C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.536-14C>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.143-14C>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.511-14C>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.511-14C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.143-14C>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.1114-14C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.112-14C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

19-46133320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133320
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133320
    reference: chr 19
allele count: 1
allele frequency: 8.570742911995611e-6
allele num: 116676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.511-16C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2799C>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.985-16C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.445-16C>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.231-16C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.143-16C>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.952-16C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.532-16C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.112-16C>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.511-16C>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.143-16C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.536-16C>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.511-16C>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.1114-16C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.455-16C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-46133329-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133329
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133329
    reference: chr 19
allele count: 1
allele frequency: 8.683872312341519e-6
allele num: 115156
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.231-25C>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.511-25C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.112-25C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.455-25C>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.511-25C>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.143-25C>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.511-25C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.536-25C>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.1114-25C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2790C>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.143-25C>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.985-25C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.532-25C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.445-25C>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.952-25C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/19-46133331-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133331
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133332
    reference: chr 19
allele count: 6
allele frequency: 5.22420548541576e-5
allele num: 114850
alternate allele: CA
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.231-28dupT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.455-28dupT
  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.511-28dupT
  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.511-28dupT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.445-28dupT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.143-28dupT
  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.985-28dupT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2787dupT
  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.511-28dupT
  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.1114-28dupT
  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.952-28dupT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.536-28dupT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.532-28dupT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.143-28dupT
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.112-28dupT
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-46133337-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46133337
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46133337
    reference: chr 19
allele count: 21
allele frequency: 1.85240724732283e-4
allele num: 113366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.445-33G>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.985-33G>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.1114-33G>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.952-33G>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.231-33G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.112-33G>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.536-33G>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: ENST00000586902
  gene symbol: EML2
  hgvsc: ENST00000586902.1:n.143-33G>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.455-33G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+2782G>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.511-33G>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: ENST00000590580
  gene symbol: EML2
  hgvsc: ENST00000590580.1:n.143-33G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.532-33G>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.511-33G>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.511-33G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12287
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-46136068-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136068
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136068
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 82242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000245925
  ensembl transcript: ENST00000245925
  gene symbol: EML2
  hgvsc: ENST00000245925.3:c.510+51C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+51C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+51C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+51C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+51C>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.230+51C>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.984+51C>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.1113+51C>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.510+51C>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.951+51C>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.510+51C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+51C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+51C>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-46136087-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136087
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136087
    reference: chr 19
allele count: 1
allele frequency: 1.158184892636261e-5
allele num: 86342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+32T>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.510+32T>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.1113+32T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+32T>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+32T>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.510+32T>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.510+32T>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.230+32T>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+32T>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.951+32T>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+32T>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.984+32T>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+32T>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-46136095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136095
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136095
    reference: chr 19
allele count: 34
allele frequency: 3.706206806339794e-4
allele num: 91738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+24C>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.510+24C>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.230+24C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+24C>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.510+24C>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.984+24C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+24C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+24C>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.510+24C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+24C>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.1113+24C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+24C>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.951+24C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9197
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22412
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

19-46136096-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136096
    reference: chr 19
allele count: 11
allele frequency: 1.187751047380469e-4
allele num: 92612
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.1113+23C>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.984+23C>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.230+23C>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.510+23C>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.510+23C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+23C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+23C>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.951+23C>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.510+23C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+23C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+23C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+23C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+23C>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

19-46136097-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136097
    reference: chr 19
allele count: 1
allele frequency: 1.084904636882418e-5
allele num: 92174
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.510+22A>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.510+22A>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.951+22A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+22A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+22A>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.510+22A>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+22A>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+22A>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.984+22A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+22A>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.1113+22A>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.230+22A>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+22A>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

19-46136100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136100
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136100
    reference: chr 19
allele count: 2
allele frequency: 2.063046707377455e-5
allele num: 96944
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.510+19C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+19C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+19C>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.984+19C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+19C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+19C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+19C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+19C>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.951+19C>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.510+19C>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.1113+19C>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.510+19C>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.230+19C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-46136106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136106
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136106
    reference: chr 19
allele count: 1
allele frequency: 9.712698381864449e-6
allele num: 102958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+13C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+13C>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.951+13C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+13C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+13C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+13C>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.510+13C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+13C>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.984+13C>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.510+13C>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.510+13C>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.230+13C>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.1113+13C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

19-46136108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136108
    reference: chr 19
allele count: 1
allele frequency: 9.421696282198648e-6
allele num: 106138
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.510+11C>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.951+11C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+11C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+11C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+11C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+11C>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.510+11C>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.510+11C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+11C>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.984+11C>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.230+11C>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.1113+11C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+11C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-46136116-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136116
    reference: chr 19
allele count: 1
allele frequency: 8.84016973125884e-6
allele num: 113120
alternate allele: C
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.951+3A>G
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.531+3A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.153+3A>G
  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.510+3A>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.444+3A>G
  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.984+3A>G
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.454+3A>G
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.535+3A>G
  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.230+3A>G
  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.1113+3A>G
  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.510+3A>G
  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.510+3A>G
  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: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.111+3A>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1113+3A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

19-46136120-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136120
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136120
    reference: chr 19
allele count: 2
allele frequency: 1.743496757096032e-5
allele num: 114712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.110C>G
  hgvsp: ENSP00000468383.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_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.983C>G
  hgvsp: ENSP00000382503.3:p.Ser328Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.152C>G
  hgvsp: ENSP00000465607.1:p.Ser51Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.443C>G
  hgvsp: ENSP00000465786.1:p.Ser148Cys
  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.509C>G
  hgvsp: ENSP00000464789.1:p.Ser170Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_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.229C>G
  hgvsp: ENSP00000465339.1:p.Leu77Val
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.443C>G
  hgvsp: ENSP00000468470.1:p.Ser148Cys
  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.509C>G
  hgvsp: ENSP00000245925.2:p.Ser170Cys
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.453C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.509C>G
  hgvsp: ENSP00000468329.1:p.Ser170Cys
  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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.966C>G
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.534C>G
  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.950C>G
  hgvsp: ENSP00000442365.1:p.Ser317Cys
  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.1112C>G
  hgvsp: ENSP00000468312.1:p.Ser371Cys
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.530C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser371Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-46136126-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136126
    reference: chr 19
allele count: 1
allele frequency: 8.594757198109153e-6
allele num: 116350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.503C>A
  hgvsp: ENSP00000464789.1:p.Ser168Tyr
  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.503C>A
  hgvsp: ENSP00000468329.1:p.Ser168Tyr
  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.503C>A
  hgvsp: ENSP00000245925.2:p.Ser168Tyr
  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.1106C>A
  hgvsp: ENSP00000468312.1:p.Ser369Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.437C>A
  hgvsp: ENSP00000468470.1:p.Ser146Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.977C>A
  hgvsp: ENSP00000382503.3:p.Ser326Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.104C>A
  hgvsp: ENSP00000468383.1:p.Ser35Tyr
  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.944C>A
  hgvsp: ENSP00000442365.1:p.Ser315Tyr
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.528C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.437C>A
  hgvsp: ENSP00000465786.1:p.Ser146Tyr
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.146C>A
  hgvsp: ENSP00000465607.1:p.Ser49Tyr
  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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.960C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.447C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.524C>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.223C>A
  hgvsp: ENSP00000465339.1:p.Pro75Thr
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser369Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

19-46136145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136145
    reference: chr 19
allele count: 1
allele frequency: 8.397292712829384e-6
allele num: 119086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.127G>A
  hgvsp: ENSP00000465607.1:p.Val43Met
  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.484G>A
  hgvsp: ENSP00000464789.1:p.Val162Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.85G>A
  hgvsp: ENSP00000468383.1:p.Val29Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.418G>A
  hgvsp: ENSP00000468470.1:p.Val140Met
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.509G>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.925G>A
  hgvsp: ENSP00000442365.1:p.Val309Met
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.428G>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.1087G>A
  hgvsp: ENSP00000468312.1:p.Val363Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.204G>A
  hgvsp: ENST00000586195.1:c.204G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.505G>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.484G>A
  hgvsp: ENSP00000468329.1:p.Val162Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.418G>A
  hgvsp: ENSP00000465786.1:p.Val140Met
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.958G>A
  hgvsp: ENSP00000382503.3:p.Val320Met
  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.484G>A
  hgvsp: ENSP00000245925.2:p.Val162Met
  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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.941G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val363Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-46136152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136152
    reference: chr 19
allele count: 2
allele frequency: 1.672268767036238e-5
allele num: 119598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.411C>T
  hgvsp: ENST00000591721.1:c.411C>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.918C>T
  hgvsp: ENST00000536630.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.951C>T
  hgvsp: ENST00000399594.3:c.951C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.421C>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.477C>T
  hgvsp: ENST00000589876.1:c.477C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.502C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.197C>T
  hgvsp: ENSP00000465339.1:p.Thr66Ile
  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.1080C>T
  hgvsp: ENST00000587152.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.120C>T
  hgvsp: ENST00000588496.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.78C>T
  hgvsp: ENST00000592853.1:c.78C>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.477C>T
  hgvsp: ENST00000245925.3:c.477C>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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.934C>T
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.498C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.477C>T
  hgvsp: ENST00000588308.1:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.411C>T
  hgvsp: ENST00000586770.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr66Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-46136156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136156
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136156
    reference: chr 19
allele count: 1
allele frequency: 8.350451759440186e-6
allele num: 119754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000464789
  ensembl transcript: ENST00000589876
  gene symbol: EML2
  hgvsc: ENST00000589876.1:c.473T>C
  hgvsp: ENSP00000464789.1:p.Phe158Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.193T>C
  hgvsp: ENST00000586195.1:c.193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.947T>C
  hgvsp: ENSP00000382503.3:p.Phe316Ser
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.498T>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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.930T>C
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.407T>C
  hgvsp: ENSP00000468470.1:p.Phe136Ser
  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.473T>C
  hgvsp: ENSP00000245925.2:p.Phe158Ser
  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.914T>C
  hgvsp: ENSP00000442365.1:p.Phe305Ser
  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.1076T>C
  hgvsp: ENSP00000468312.1:p.Phe359Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.116T>C
  hgvsp: ENSP00000465607.1:p.Phe39Ser
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.417T>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.494T>C
  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.473T>C
  hgvsp: ENSP00000468329.1:p.Phe158Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.407T>C
  hgvsp: ENSP00000465786.1:p.Phe136Ser
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.74T>C
  hgvsp: ENSP00000468383.1:p.Phe25Ser
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13670
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe359Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-46136160-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136160
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136160
    reference: chr 19
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.70G>T
  hgvsp: ENSP00000468383.1:p.Val24Leu
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.490G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.112G>T
  hgvsp: ENSP00000465607.1:p.Val38Leu
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.494G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.943G>T
  hgvsp: ENSP00000382503.3:p.Val315Leu
  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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.926G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.403G>T
  hgvsp: ENSP00000468470.1:p.Val135Leu
  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.469G>T
  hgvsp: ENSP00000468329.1:p.Val157Leu
  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.469G>T
  hgvsp: ENSP00000464789.1:p.Val157Leu
  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.910G>T
  hgvsp: ENSP00000442365.1:p.Val304Leu
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.189G>T
  hgvsp: ENST00000586195.1:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.403G>T
  hgvsp: ENSP00000465786.1:p.Val135Leu
  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.1072G>T
  hgvsp: ENSP00000468312.1:p.Val358Leu
  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.469G>T
  hgvsp: ENSP00000245925.2:p.Val157Leu
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.413G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val358Leu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-46136163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136163
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136163
    reference: chr 19
allele count: 2
allele frequency: 1.668864004272292e-5
allele num: 119842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.923G>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.466G>A
  hgvsp: ENSP00000245925.2:p.Gly156Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.940G>A
  hgvsp: ENSP00000382503.3:p.Gly314Arg
  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.1069G>A
  hgvsp: ENSP00000468312.1:p.Gly357Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.67G>A
  hgvsp: ENSP00000468383.1:p.Gly23Arg
  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.466G>A
  hgvsp: ENSP00000464789.1:p.Gly156Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.186G>A
  hgvsp: ENSP00000465339.1:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.400G>A
  hgvsp: ENSP00000468470.1:p.Gly134Arg
  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.466G>A
  hgvsp: ENSP00000468329.1:p.Gly156Arg
  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.907G>A
  hgvsp: ENSP00000442365.1:p.Gly303Arg
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.109G>A
  hgvsp: ENSP00000465607.1:p.Gly37Arg
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.491G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.400G>A
  hgvsp: ENSP00000465786.1:p.Gly134Arg
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.487G>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.410G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Trp62Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-46136168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136168
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136168
    reference: chr 19
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.181G>A
  hgvsp: ENSP00000465339.1:p.Ala61Thr
  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.461G>A
  hgvsp: ENSP00000245925.2:p.Gly154Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.935G>A
  hgvsp: ENSP00000382503.3:p.Gly312Asp
  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.1064G>A
  hgvsp: ENSP00000468312.1:p.Gly355Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.104G>A
  hgvsp: ENSP00000465607.1:p.Gly35Asp
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.405G>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.461G>A
  hgvsp: ENSP00000464789.1:p.Gly154Asp
  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.461G>A
  hgvsp: ENSP00000468329.1:p.Gly154Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.395G>A
  hgvsp: ENSP00000468470.1:p.Gly132Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.395G>A
  hgvsp: ENSP00000465786.1:p.Gly132Asp
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000467941
  ensembl transcript: ENST00000593255
  gene symbol: EML2
  hgvsc: ENST00000593255.1:c.395G>A
  hgvsp: ENSP00000467941.1:p.Gly132Asp
  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.902G>A
  hgvsp: ENSP00000442365.1:p.Gly301Asp
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.486G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.62G>A
  hgvsp: ENSP00000468383.1:p.Gly21Asp
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.482G>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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.918G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly355Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-46136170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136170
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136170
    reference: chr 19
allele count: 2
allele frequency: 1.667889785842951e-5
allele num: 119912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468312
  ensembl transcript: ENST00000587152
  gene symbol: EML2
  hgvsc: ENST00000587152.1:c.1062G>A
  hgvsp: ENST00000587152.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000467941
  ensembl transcript: ENST00000593255
  gene symbol: EML2
  hgvsc: ENST00000593255.1:c.393G>A
  hgvsp: ENST00000593255.1:c.393G>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.459G>A
  hgvsp: ENST00000245925.3:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.393G>A
  hgvsp: ENST00000591721.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.393G>A
  hgvsp: ENST00000586770.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.179G>A
  hgvsp: ENSP00000465339.1:p.Trp60Ter
  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.459G>A
  hgvsp: ENST00000589876.1:c.459G>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.484G>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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.916G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.60G>A
  hgvsp: ENST00000592853.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.933G>A
  hgvsp: ENST00000399594.3:c.933G>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.403G>A
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.102G>A
  hgvsp: ENST00000588496.1:c.102G>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.900G>A
  hgvsp: ENST00000536630.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.459G>A
  hgvsp: ENST00000588308.1:c.459G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.480G>A
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp60Ter
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-46136172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136172
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136172
    reference: chr 19
allele count: 3
allele frequency: 2.50325423049965e-5
allele num: 119844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.58C>T
  hgvsp: ENST00000592853.1:c.58C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.931C>T
  hgvsp: ENST00000399594.3:c.931C>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.457C>T
  hgvsp: ENST00000589876.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.177C>T
  hgvsp: ENST00000586195.1:c.177C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.401C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.391C>T
  hgvsp: ENST00000586770.1:c.391C>T(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.1060C>T
  hgvsp: ENST00000587152.1:c.1060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.457C>T
  hgvsp: ENST00000588308.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000467941
  ensembl transcript: ENST00000593255
  gene symbol: EML2
  hgvsc: ENST00000593255.1:c.391C>T
  hgvsp: ENST00000593255.1:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.391C>T
  hgvsp: ENST00000591721.1:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.100C>T
  hgvsp: ENST00000588496.1:c.100C>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.898C>T
  hgvsp: ENST00000536630.1:c.898C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.482C>T
  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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.914C>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.457C>T
  hgvsp: ENST00000245925.3:c.457C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.478C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu354Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-46136173-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136173
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136173
    reference: chr 19
allele count: 1
allele frequency: 8.343484572897024e-6
allele num: 119854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.930G>T
  hgvsp: ENST00000399594.3:c.930G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000467941
  ensembl transcript: ENST00000593255
  gene symbol: EML2
  hgvsc: ENST00000593255.1:c.390G>T
  hgvsp: ENST00000593255.1:c.390G>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.477G>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.390G>T
  hgvsp: ENST00000591721.1:c.390G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.176G>T
  hgvsp: ENSP00000465339.1:p.Cys59Phe
  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.897G>T
  hgvsp: ENST00000536630.1:c.897G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.456G>T
  hgvsp: ENST00000588308.1:c.456G>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.456G>T
  hgvsp: ENST00000589876.1:c.456G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.57G>T
  hgvsp: ENST00000592853.1:c.57G>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.400G>T
  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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.913G>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.1059G>T
  hgvsp: ENST00000587152.1:c.1059G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.99G>T
  hgvsp: ENST00000588496.1:c.99G>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.456G>T
  hgvsp: ENST00000245925.3:c.456G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.390G>T
  hgvsp: ENST00000586770.1:c.390G>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.481G>T
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys59Phe
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-46136182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136182
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136182
    reference: chr 19
allele count: 10
allele frequency: 8.358827757995219e-5
allele num: 119634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.391C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.921C>T
  hgvsp: ENST00000399594.3:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.90C>T
  hgvsp: ENST00000588496.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.381C>T
  hgvsp: ENST00000586770.1:c.381C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.472C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.447C>T
  hgvsp: ENST00000588308.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.48C>T
  hgvsp: ENST00000592853.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.381C>T
  hgvsp: ENST00000591721.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.167C>T
  hgvsp: ENSP00000465339.1:p.Pro56Leu
  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.888C>T
  hgvsp: ENST00000536630.1:c.888C>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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.904C>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.447C>T
  hgvsp: ENST00000589876.1:c.447C>T(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.1050C>T
  hgvsp: ENST00000587152.1:c.1050C>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.447C>T
  hgvsp: ENST00000245925.3:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000467941
  ensembl transcript: ENST00000593255
  gene symbol: EML2
  hgvsc: ENST00000593255.1:c.381C>T
  hgvsp: ENST00000593255.1:c.381C>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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.468C>T
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

19-46136188-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136188
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136188
    reference: chr 19
allele count: 1
allele frequency: 8.376331836762046e-6
allele num: 119384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125746
  ensembl transcript: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.462C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468329
  ensembl transcript: ENST00000588308
  gene symbol: EML2
  hgvsc: ENST00000588308.1:c.441C>G
  hgvsp: ENST00000588308.1:c.441C>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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.466C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.42C>G
  hgvsp: ENST00000592853.1:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.915C>G
  hgvsp: ENST00000399594.3:c.915C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000467941
  ensembl transcript: ENST00000593255
  gene symbol: EML2
  hgvsc: ENST00000593255.1:c.375C>G
  hgvsp: ENST00000593255.1:c.375C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.161C>G
  hgvsp: ENSP00000465339.1:p.Ser54Cys
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.375C>G
  hgvsp: ENST00000586770.1:c.375C>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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.898C>G
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.375C>G
  hgvsp: ENST00000591721.1:c.375C>G(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.882C>G
  hgvsp: ENST00000536630.1:c.882C>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.1044C>G
  hgvsp: ENST00000587152.1:c.1044C>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.441C>G
  hgvsp: ENST00000589876.1:c.441C>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.441C>G
  hgvsp: ENST00000245925.3:c.441C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.84C>G
  hgvsp: ENST00000588496.1:c.84C>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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.385C>G
  variant of: http://identifiers.org/hgnc/18035
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser54Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-46136192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136192
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136192
    reference: chr 19
allele count: 3
allele frequency: 2.513489057944301e-5
allele num: 119356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000467941
  ensembl transcript: ENST00000593255
  gene symbol: EML2
  hgvsc: ENST00000593255.1:c.371C>T
  hgvsp: ENSP00000467941.1:p.Ser124Phe
  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: ENST00000587804
  gene symbol: EML2
  hgvsc: ENST00000587804.1:n.381C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465339
  ensembl transcript: ENST00000586195
  gene symbol: EML2
  hgvsc: ENST00000586195.1:c.157C>T
  hgvsp: ENSP00000465339.1:p.Pro53Ser
  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.437C>T
  hgvsp: ENSP00000245925.2:p.Ser146Phe
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465607
  ensembl transcript: ENST00000588496
  gene symbol: EML2
  hgvsc: ENST00000588496.1:c.80C>T
  hgvsp: ENSP00000465607.1:p.Ser27Phe
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468383
  ensembl transcript: ENST00000592853
  gene symbol: EML2
  hgvsc: ENST00000592853.1:c.38C>T
  hgvsp: ENSP00000468383.1:p.Ser13Phe
  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: ENST00000588000
  gene symbol: EML2
  hgvsc: ENST00000588000.1:n.462C>T
  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.437C>T
  hgvsp: ENSP00000468329.1:p.Ser146Phe
  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: ENST00000588610
  gene symbol: EML2
  hgvsc: ENST00000588610.1:n.458C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000465786
  ensembl transcript: ENST00000586770
  gene symbol: EML2
  hgvsc: ENST00000586770.1:c.371C>T
  hgvsp: ENSP00000465786.1:p.Ser124Phe
  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: ENST00000588889
  gene symbol: EML2
  hgvsc: ENST00000588889.1:n.894C>T
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000468470
  ensembl transcript: ENST00000591721
  gene symbol: EML2
  hgvsc: ENST00000591721.1:c.371C>T
  hgvsp: ENSP00000468470.1:p.Ser124Phe
  variant of: http://identifiers.org/hgnc/18035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125746
  ensembl protein: ENSP00000382503
  ensembl transcript: ENST00000399594
  gene symbol: EML2
  hgvsc: ENST00000399594.3:c.911C>T
  hgvsp: ENSP00000382503.3:p.Ser304Phe
  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.437C>T
  hgvsp: ENSP00000464789.1:p.Ser146Phe
  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.878C>T
  hgvsp: ENSP00000442365.1:p.Ser293Phe
  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.1040C>T
  hgvsp: ENSP00000468312.1:p.Ser347Phe
  variant of: http://identifiers.org/hgnc/18035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser347Phe
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

19-46136203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46136203
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46136203
allele count: 1
allele frequency: 8.45394291897741e-6
allele num: 118288
alternate allele: T
canonical: true
consequence: stop gained
filter: PASS
hgvs: p.Trp343Ter
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 0
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 427
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 0
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2321
bin: 7.5e0
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.456e1

MQ
type: SiteQuality
SIO_000300: 5.464e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.069e-1

DP
type: SiteQuality
SIO_000300: 6.164e3

GenotypeDepth
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1479
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

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

Other
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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

European (Non-Finnish)
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allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

European (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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South Asian
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num of homozygotes: 0

FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

East Asian
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allele count: 0
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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

Other
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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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African
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South Asian
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MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 1.21580547112462e-4
allele num: 16450
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African
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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

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

MQ
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FS
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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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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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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Other
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South Asian
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East Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Latino
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DP
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VQSLOD
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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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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East Asian
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European (Non-Finnish)
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South Asian
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African
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Latino
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European (Finnish)
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FS
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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VQSLOD
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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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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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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QD
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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QD
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VQSLOD
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MQRankSum
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DP
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MQ
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Latino
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African
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European (Non-Finnish)
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8654
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.862754e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

FS
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.124e1

VQSLOD
type: SiteQuality
SIO_000300: -1.169e0

GenotypeDepth
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bin: 4.75e1
variant carriers: 786

GenotypeDepth
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GenotypeDepth
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variant carriers: 108

GenotypeDepth
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variant carriers: 542

GenotypeDepth
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variant carriers: 509

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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GenotypeDepth
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variant carriers: 1037

GenotypeDepth
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variant carriers: 232

GenotypeDepth
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variant carriers: 1000

GenotypeDepth
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variant carriers: 764

GenotypeDepth
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variant carriers: 1165

GenotypeDepth
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variant carriers: 3226

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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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variant carriers: 13899

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 26

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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variant carriers: 7

East Asian
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allele count: 823
allele frequency: 9.512251502542765e-2
allele num: 8652
num of homozygotes: 35

African
type: Population
allele count: 1618
allele frequency: 1.557566422795533e-1
allele num: 10388
num of homozygotes: 138

South Asian
type: Population
allele count: 2089
allele frequency: 1.266060606060606e-1
allele num: 16500
num of homozygotes: 157

European (Finnish)
type: Population
allele count: 472
allele frequency: 7.138535995160314e-2
allele num: 6612
num of homozygotes: 15

Other
type: Population
allele count: 93
allele frequency: 1.024229074889868e-1
allele num: 908
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 8118
allele frequency: 1.217529545863579e-1
allele num: 66676
num of homozygotes: 482

Latino
type: Population
allele count: 1859
allele frequency: 1.611197781244583e-1
allele num: 11538
num of homozygotes: 142

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
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SIO_000300: 3.56e0

DP
type: SiteQuality
SIO_000300: 2.497366e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.717e1

GenotypeDepth
all individuals: 20260
bin: 2.75e1
variant carriers: 247

GenotypeDepth
all individuals: 670
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variant carriers: 633

GenotypeDepth
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GenotypeDepth
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variant carriers: 388

GenotypeDepth
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variant carriers: 727

GenotypeDepth
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variant carriers: 1071

GenotypeDepth
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variant carriers: 773

GenotypeDepth
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variant carriers: 3148

GenotypeDepth
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GenotypeDepth
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variant carriers: 938

GenotypeDepth
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variant carriers: 807

GenotypeDepth
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variant carriers: 131

GenotypeDepth
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variant carriers: 1098

GenotypeQuality
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GenotypeQuality
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variant carriers: 14012

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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variant carriers: 16

GenotypeQuality
all individuals: 10
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variant carriers: 10

GenotypeQuality
all individuals: 20
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variant carriers: 12

Latino
type: Population
allele count: 1863
allele frequency: 1.614384748700173e-1
allele num: 11540
num of homozygotes: 143

African
type: Population
allele count: 1655
allele frequency: 1.593491238205276e-1
allele num: 10386
num of homozygotes: 147

East Asian
type: Population
allele count: 822
allele frequency: 9.502890173410404e-2
allele num: 8650
num of homozygotes: 35

European (Finnish)
type: Population
allele count: 472
allele frequency: 7.140695915279879e-2
allele num: 6610
num of homozygotes: 15

Other
type: Population
allele count: 94
allele frequency: 1.035242290748899e-1
allele num: 908
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 8217
allele frequency: 1.232377467154598e-1
allele num: 66676
num of homozygotes: 495

South Asian
type: Population
allele count: 2088
allele frequency: 1.265454545454545e-1
allele num: 16500
num of homozygotes: 157

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

DP
type: SiteQuality
SIO_000300: 2.491617e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.736e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 4481
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variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.801689e6

MQ
type: SiteQuality
SIO_000300: 5.724e1

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

FS
type: SiteQuality
SIO_000300: 3.385e0

QD
type: SiteQuality
SIO_000300: 1.619e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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African
type: Population
allele count: 5
allele frequency: 4.817883985353633e-4
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.724e1

DP
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 10333
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variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500990217847926e-5
allele num: 66652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
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QD
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.799726e6

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

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

Other
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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: 6602
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
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BaseQRankSum
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SIO_000300: 1.84e0

InbreedingCoeff
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QD
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SIO_000300: 6.89e0

MQRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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SIO_000300: 1.799668e6

ReadPosRankSum
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SIO_000300: 1.91e0

GenotypeDepth
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variant carriers: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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FS
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SIO_000300: 9.919e0

MQ
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SIO_000300: 5.973e1

ClippingRankSum
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SIO_000300: 6.0e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 2

Latino
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allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

MQ
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SIO_000300: 6.0e1

FS
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66564
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

Other
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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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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
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

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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num of homozygotes: 0

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

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

Latino
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.31535077564251e-4
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African
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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
allele num: 66342
num of homozygotes: 0

South Asian
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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East Asian
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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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DP
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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SIO_000300: 2.42e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Latino
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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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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515059693351918e-5
allele num: 66004
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
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SIO_000300: 2.41e-1

MQ
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SIO_000300: 5.962e1

VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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MQRankSum
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DP
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SIO_000300: 1.757219e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6344
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.078249091916518e-5
allele num: 64972
num of homozygotes: 0

ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.864e1

VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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num of homozygotes: 0

Latino
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allele frequency: 9.120758847136082e-5
allele num: 10964
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

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

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

Other
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Latino
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Other
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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QD
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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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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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European (Non-Finnish)
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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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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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European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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QD
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ReadPosRankSum
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FS
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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African
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.024127601003967e-5
allele num: 49404
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -5.5e-3

VQSLOD
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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DP
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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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European (Non-Finnish)
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allele count: 4
allele frequency: 7.621951219512195e-5
allele num: 52480
num of homozygotes: 0

Other
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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
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num of homozygotes: 0

South Asian
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allele frequency: 1.01419878296146e-3
allele num: 12818
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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allele count: 17
allele frequency: 2.613776137761378e-3
allele num: 6504
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.92e0

QD
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FS
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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SIO_000300: 5.17e-1

ClippingRankSum
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SIO_000300: -2.29e-1

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 10
allele frequency: 1.888859506629897e-4
allele num: 52942
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: 7.768800497203231e-5
allele num: 12872
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: -2.9e-3

BaseQRankSum
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SIO_000300: -2.828e0

FS
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SIO_000300: 2.264e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQRankSum
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SIO_000300: 1.16e-1

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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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.89436993256043e-5
allele num: 52788
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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 0.0e0

QD
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MQRankSum
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SIO_000300: 3.58e-1

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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allele count: 1
allele frequency: 1.461988304093567e-3
allele num: 684
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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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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allele count: 0
allele frequency: 0.0e0
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Latino
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QD
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DP
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MQRankSum
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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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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European (Non-Finnish)
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allele num: 58320
num of homozygotes: 0

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

Other
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East Asian
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South Asian
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FS
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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ClippingRankSum
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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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South Asian
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Other
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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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African
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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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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African
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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Other
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VQSLOD
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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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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GenotypeDepth
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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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East Asian
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Other
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South Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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QD
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DP
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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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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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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South Asian
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European (Non-Finnish)
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Latino
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African
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Other
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European (Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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DP
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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African
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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VQSLOD
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MQRankSum
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FS
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DP
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InbreedingCoeff
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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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Other
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African
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South Asian
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European (Non-Finnish)
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Latino
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allele num: 11438
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East Asian
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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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DP
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InbreedingCoeff
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FS
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VQSLOD
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QD
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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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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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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African
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South Asian
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East Asian
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European (Finnish)
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FS
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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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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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: 1.517358582180141e-5
allele num: 65904
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MQRankSum
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QD
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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African
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East Asian
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South Asian
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Other
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European (Finnish)
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Latino
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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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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South Asian
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African
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European (Finnish)
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East Asian
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Latino
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Other
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European (Non-Finnish)
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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SIO_000300: 8.869999999999999e0

DP
type: SiteQuality
SIO_000300: 1.467653e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.662e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

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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variant carriers: 10

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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variant carriers: 0

Other
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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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Latino
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East 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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South Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

BaseQRankSum
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SIO_000300: -1.207e0

MQRankSum
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SIO_000300: -2.09e-1

ClippingRankSum
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SIO_000300: -4.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.463348e6

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
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
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
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SIO_000300: -1.754e0

ReadPosRankSum
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SIO_000300: -2.294e0

QD
type: SiteQuality
SIO_000300: 1.001e1

MQRankSum
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SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.153e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

DP
type: SiteQuality
SIO_000300: 1.45873e6

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 888
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele count: 2
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allele num: 65652
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Latino
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

DP
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SIO_000300: 1.458552e6

MQRankSum
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SIO_000300: -1.48e-1

ReadPosRankSum
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SIO_000300: 1.36e0

InbreedingCoeff
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SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
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FS
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SIO_000300: 4.5e-1

MQ
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QD
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VQSLOD
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