14-100593146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100593146
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100593146
    reference: chr 14
allele count: 2
allele frequency: 1.6839836316791e-5
allele num: 118766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*188+38G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.169+38G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*57+38G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.499+38G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.442+38G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.487+38G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.481+38G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.191+38G>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

14-100593147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100593147
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100593147
    reference: chr 14
allele count: 17
allele frequency: 1.432085453381406e-4
allele num: 118708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*188+39C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.442+39C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.481+39C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.169+39C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.487+39C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*57+39C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.191+39C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.499+39C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14080
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-100593160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100593160
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100593160
    reference: chr 14
allele count: 37
allele frequency: 3.145349133753847e-4
allele num: 117634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.481+52G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.191+52G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.487+52G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.499+52G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*57+52G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*188+52G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.442+52G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.169+52G>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

14-100594806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594806
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594806
    reference: chr 14
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.170-50G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*58-50G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.192-50G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.482-50G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.443-50G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.488-50G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*189-50G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.500-50G>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

14-100594806-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594806
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594806
    reference: chr 14
allele count: 3
allele frequency: 2.483813813316554e-5
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*58-50G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.443-50G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.488-50G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.482-50G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*189-50G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.500-50G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.192-50G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.170-50G>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-100594808-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594808
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594808
    reference: chr 14
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.192-48C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.488-48C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.170-48C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*189-48C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.482-48C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.500-48C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*58-48C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.443-48C>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-100594808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594808
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594808
    reference: chr 14
allele count: 2
allele frequency: 1.656204971927326e-5
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.192-48C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.443-48C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*58-48C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.500-48C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.170-48C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.488-48C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*189-48C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.482-48C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-100594809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594809
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594809
    reference: chr 14
allele count: 2
allele frequency: 1.65582103886212e-5
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.488-47C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.443-47C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*189-47C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*58-47C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.500-47C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.170-47C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.192-47C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.482-47C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

14-100594812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594812
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594812
    reference: chr 14
allele count: 6
allele frequency: 4.968038949425363e-5
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*189-44C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.192-44C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.500-44C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*58-44C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.488-44C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.443-44C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.482-44C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.170-44C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

14-100594830-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594830
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594830
    reference: chr 14
allele count: 392
allele frequency: 3.24519429773002e-3
allele num: 120794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*189-26G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.482-26G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.500-26G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.443-26G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.192-26G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*58-26G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.488-26G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.170-26G>C
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 13158
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 9.75e1
  variant carriers: 387
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 4
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-100594859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594859
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594859
    reference: chr 14
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.446C>T
  hgvsp: ENSP00000452327.1:p.Pro149Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.195C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.503C>T
  hgvsp: ENSP00000437904.2:p.Pro168Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.485C>T
  hgvsp: ENSP00000384720.2:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.173C>T
  hgvsp: ENSP00000450979.1:p.Pro58Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*61C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.491C>T
  hgvsp: ENSP00000376652.3:p.Pro164Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*192C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro164Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

14-100594860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594860
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594860
    reference: chr 14
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.492C>T
  hgvsp: ENST00000392920.3:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.174C>T
  hgvsp: ENST00000557384.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*193C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.447C>T
  hgvsp: ENST00000557153.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.486C>T
  hgvsp: ENST00000402714.2:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.196C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.504C>T
  hgvsp: ENST00000544450.2:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*62C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14597
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro164Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-100594864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594864
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594864
    reference: chr 14
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.178C>T
  hgvsp: ENSP00000450979.1:p.Leu60Phe
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*66C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.496C>T
  hgvsp: ENSP00000376652.3:p.Leu166Phe
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.490C>T
  hgvsp: ENSP00000384720.2:p.Leu164Phe
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.508C>T
  hgvsp: ENSP00000437904.2:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.451C>T
  hgvsp: ENSP00000452327.1:p.Leu151Phe
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.200C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu166Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

14-100594874-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594874
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594874
    reference: chr 14
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.518G>C
  hgvsp: ENSP00000437904.2:p.Gly173Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.500G>C
  hgvsp: ENSP00000384720.2:p.Gly167Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.461G>C
  hgvsp: ENSP00000452327.1:p.Gly154Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.188G>C
  hgvsp: ENSP00000450979.1:p.Gly63Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*76G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.506G>C
  hgvsp: ENSP00000376652.3:p.Gly169Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.210G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*207G>C
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly169Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-100594876-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594876
    reference: chr 14
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.463C>A
  hgvsp: ENSP00000452327.1:p.His155Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.190C>A
  hgvsp: ENSP00000450979.1:p.His64Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*78C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.502C>A
  hgvsp: ENSP00000384720.2:p.His168Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*209C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.508C>A
  hgvsp: ENSP00000376652.3:p.His170Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.520C>A
  hgvsp: ENSP00000437904.2:p.His174Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.212C>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His170Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

14-100594883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594883
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594883
    reference: chr 14
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.527C>T
  hgvsp: ENSP00000437904.2:p.Ser176Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.197C>T
  hgvsp: ENSP00000450979.1:p.Ser66Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.509C>T
  hgvsp: ENSP00000384720.2:p.Ser170Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.515C>T
  hgvsp: ENSP00000376652.3:p.Ser172Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.219C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.470C>T
  hgvsp: ENSP00000452327.1:p.Ser157Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*216C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*85C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser172Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/14-100594896-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594896
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594896
    reference: chr 14
allele count: 1
allele frequency: 8.340700952508049e-6
allele num: 119894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.522C>A
  hgvsp: ENSP00000384720.2:p.Ser174Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*98C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.528C>A
  hgvsp: ENSP00000376652.3:p.Ser176Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.210C>A
  hgvsp: ENSP00000450979.1:p.Ser70Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.483C>A
  hgvsp: ENSP00000452327.1:p.Ser161Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.540C>A
  hgvsp: ENSP00000437904.2:p.Ser180Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*229C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.232C>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser176Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-100594897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594897
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594897
    reference: chr 14
allele count: 1
allele frequency: 8.3462700519138e-6
allele num: 119814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*230G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.523G>A
  hgvsp: ENSP00000384720.2:p.Ala175Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.484G>A
  hgvsp: ENSP00000452327.1:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.233G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.529G>A
  hgvsp: ENSP00000376652.3:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*99G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.211G>A
  hgvsp: ENSP00000450979.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.541G>A
  hgvsp: ENSP00000437904.2:p.Ala181Thr
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33403
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala177Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-100594902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594902
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594902
    reference: chr 14
allele count: 10
allele frequency: 8.36344172353807e-5
allele num: 119568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.528C>T
  hgvsp: ENST00000402714.2:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.489C>T
  hgvsp: ENST00000557153.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.546C>T
  hgvsp: ENST00000544450.2:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.216C>T
  hgvsp: ENST00000557384.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.534C>T
  hgvsp: ENST00000392920.3:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.238C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*235C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro178Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

14-100594903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594903
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594903
    reference: chr 14
allele count: 2
allele frequency: 1.677064466358087e-5
allele num: 119256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.217G>A
  hgvsp: ENSP00000450979.1:p.Val73Ile
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.547G>A
  hgvsp: ENSP00000437904.2:p.Val183Ile
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.239G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.490G>A
  hgvsp: ENSP00000452327.1:p.Val164Ile
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*236G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.529G>A
  hgvsp: ENSP00000384720.2:p.Val177Ile
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.535G>A
  hgvsp: ENSP00000376652.3:p.Val179Ile
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val179Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

14-100594915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594915
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594915
    reference: chr 14
allele count: 1
allele frequency: 8.563403439062821e-6
allele num: 116776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.541G>A
  hgvsp: ENSP00000384720.2:p.Gly181Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.502G>A
  hgvsp: ENSP00000452327.1:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*117G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.251G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.559G>A
  hgvsp: ENSP00000437904.2:p.Gly187Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.229G>A
  hgvsp: ENSP00000450979.1:p.Gly77Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.547G>A
  hgvsp: ENSP00000376652.3:p.Gly183Arg
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly183Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

14-100594917-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594917
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594917
    reference: chr 14
allele count: 1
allele frequency: 8.790126929432861e-6
allele num: 113764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.549G>T
  hgvsp: ENST00000392920.3:c.549G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*250G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.543G>T
  hgvsp: ENST00000402714.2:c.543G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.561G>T
  hgvsp: ENST00000544450.2:c.561G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*119G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.231G>T
  hgvsp: ENST00000557384.1:c.231G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.253G>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452327
  ensembl transcript: ENST00000557153
  gene symbol: EVL
  hgvsc: ENST00000557153.1:c.504G>T
  hgvsp: ENST00000557153.1:c.504G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly183Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

14-100594926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594926
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594926
    reference: chr 14
allele count: 7
allele frequency: 7.33691095086366e-5
allele num: 95408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.240G>A
  hgvsp: ENST00000557384.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.3G>A
  hgvsp: ENST00000554695.1:c.3G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*128G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.262G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.570G>A
  hgvsp: ENST00000544450.2:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*259G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.552G>A
  hgvsp: ENST00000402714.2:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.558G>A
  hgvsp: ENST00000392920.3:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro186Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

14-100594926-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594926
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594927
    reference: chr 14
allele count: 28
allele frequency: 2.934764380345464e-4
allele num: 95408
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.11dupC
  hgvsp: ENSP00000451821.1:p.Pro5ThrfsTer108
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.560dupC
  hgvsp: ENSP00000384720.2:p.Pro188ThrfsTer108
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.248dupC
  hgvsp: ENSP00000450979.1:p.Pro84ThrfsTer108
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*136dupC
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*267dupC
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.578dupC
  hgvsp: ENSP00000437904.2:p.Pro194ThrfsTer108
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.566dupC
  hgvsp: ENSP00000376652.3:p.Pro190ThrfsTer108
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17626
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26442
  bin: 2.25e1
  variant carriers: 3
hgvs: p.Pro190ThrfsTer108
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-100594926-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594926
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594925
    reference: chr 14
allele count: 14
allele frequency: 1.467382190172732e-4
allele num: 95408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*136delC
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.566delC
  hgvsp: ENSP00000376652.3:p.Pro189HisfsTer41
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.560delC
  hgvsp: ENSP00000384720.2:p.Pro187HisfsTer41
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.11delC
  hgvsp: ENSP00000451821.1:p.Pro4HisfsTer41
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.248delC
  hgvsp: ENSP00000450979.1:p.Pro83HisfsTer41
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.578delC
  hgvsp: ENSP00000437904.2:p.Pro193HisfsTer41
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*267delC
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17626
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 2
hgvs: p.Pro189HisfsTer41
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: GC
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-100594929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594929
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594929
    reference: chr 14
allele count: 8
allele frequency: 9.286560026002368e-5
allele num: 86146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.555C>T
  hgvsp: ENST00000402714.2:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.243C>T
  hgvsp: ENST00000557384.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.573C>T
  hgvsp: ENST00000544450.2:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.6C>T
  hgvsp: ENST00000554695.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196405
  ensembl transcript: ENST00000553910
  gene symbol: EVL
  hgvsc: ENST00000553910.1:n.265C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*131C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.561C>T
  hgvsp: ENST00000392920.3:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*262C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28886
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro187Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-100594931-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594931
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594931
    reference: chr 14
allele count: 2
allele frequency: 2.584513594541507e-5
allele num: 77384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.563C>A
  hgvsp: ENSP00000376652.3:p.Pro188His
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.245C>A
  hgvsp: ENSP00000450979.1:p.Pro82His
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.8C>A
  hgvsp: ENSP00000451821.1:p.Pro3His
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.575C>A
  hgvsp: ENSP00000437904.2:p.Pro192His
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.557C>A
  hgvsp: ENSP00000384720.2:p.Pro186His
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*133C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*264C>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro188His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-100594932-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594932
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594932
    reference: chr 14
allele count: 1
allele frequency: 1.291188926763764e-5
allele num: 77448
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.564C>G
  hgvsp: ENST00000392920.3:c.564C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*265C>G
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.576C>G
  hgvsp: ENST00000544450.2:c.576C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.9C>G
  hgvsp: ENST00000554695.1:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.246C>G
  hgvsp: ENST00000557384.1:c.246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.558C>G
  hgvsp: ENST00000402714.2:c.558C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*134C>G
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16225
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro188Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-100594933-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594933
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594933
    reference: chr 14
allele count: 1
allele frequency: 1.399345106490163e-5
allele num: 71462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.10C>A
  hgvsp: ENSP00000451821.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.247C>A
  hgvsp: ENSP00000450979.1:p.Pro83Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.565C>A
  hgvsp: ENSP00000376652.3:p.Pro189Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*135C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.577C>A
  hgvsp: ENSP00000437904.2:p.Pro193Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*266C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.559C>A
  hgvsp: ENSP00000384720.2:p.Pro187Thr
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro189Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-100594934-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594934
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594934
    reference: chr 14
allele count: 6
allele frequency: 1.023087678614057e-4
allele num: 58646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.560C>A
  hgvsp: ENSP00000384720.2:p.Pro187Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.248C>A
  hgvsp: ENSP00000450979.1:p.Pro83Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.11C>A
  hgvsp: ENSP00000451821.1:p.Pro4Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*136C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.578C>A
  hgvsp: ENSP00000437904.2:p.Pro193Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.566C>A
  hgvsp: ENSP00000376652.3:p.Pro189Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*267C>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro189Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-100594934-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594934
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594933
    reference: chr 14
allele count: 2
allele frequency: 3.410292262046858e-5
allele num: 58646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.249delA
  hgvsp: ENSP00000450979.1:p.Pro85GlnfsTer39
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.12delA
  hgvsp: ENSP00000451821.1:p.Pro6GlnfsTer39
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.561delA
  hgvsp: ENSP00000384720.2:p.Pro189GlnfsTer39
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*268delA
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.579delA
  hgvsp: ENSP00000437904.2:p.Pro195GlnfsTer39
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.567delA
  hgvsp: ENSP00000376652.3:p.Pro191GlnfsTer39
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*137delA
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19025
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro191GlnfsTer39
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: CA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/14-100594935-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594935
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594935
    reference: chr 14
allele count: 370
allele frequency: 7.45036446377512e-3
allele num: 49662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.567A>C
  hgvsp: ENST00000392920.3:c.567A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.249A>C
  hgvsp: ENST00000557384.1:c.249A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*137A>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.561A>C
  hgvsp: ENST00000402714.2:c.561A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.12A>C
  hgvsp: ENST00000554695.1:c.12A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.579A>C
  hgvsp: ENST00000544450.2:c.579A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*268A>C
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 6.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 1.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 2.75e1
  variant carriers: 17
hgvs: p.Pro189Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

14-100594937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594937
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594937
    reference: chr 14
allele count: 3
allele frequency: 6.26200217082742e-5
allele num: 47908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.581C>T
  hgvsp: ENSP00000437904.2:p.Pro194Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.569C>T
  hgvsp: ENSP00000376652.3:p.Pro190Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*139C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.563C>T
  hgvsp: ENSP00000384720.2:p.Pro188Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.14C>T
  hgvsp: ENSP00000451821.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.251C>T
  hgvsp: ENSP00000450979.1:p.Pro84Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*270C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro190Leu
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

14-100594938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594938
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594938
    reference: chr 14
allele count: 1
allele frequency: 3.528830545557202e-5
allele num: 28338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*271C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.570C>T
  hgvsp: ENST00000392920.3:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.564C>T
  hgvsp: ENST00000402714.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.252C>T
  hgvsp: ENST00000557384.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.15C>T
  hgvsp: ENST00000554695.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.582C>T
  hgvsp: ENST00000544450.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*140C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro190Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/14-100594940-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594940
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594940
    reference: chr 14
allele count: 2
allele frequency: 6.658676255160474e-5
allele num: 30036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.566C>A
  hgvsp: ENSP00000384720.2:p.Pro189Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.254C>A
  hgvsp: ENSP00000450979.1:p.Pro85Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.584C>A
  hgvsp: ENSP00000437904.2:p.Pro195Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.572C>A
  hgvsp: ENSP00000376652.3:p.Pro191Gln
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*142C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*273C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.17C>A
  hgvsp: ENSP00000451821.1:p.Pro6Gln
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro191Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

14-100594940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594940
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594940
    reference: chr 14
allele count: 2
allele frequency: 6.658676255160474e-5
allele num: 30036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.17C>T
  hgvsp: ENSP00000451821.1:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.572C>T
  hgvsp: ENSP00000376652.3:p.Pro191Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.254C>T
  hgvsp: ENSP00000450979.1:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.584C>T
  hgvsp: ENSP00000437904.2:p.Pro195Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.566C>T
  hgvsp: ENSP00000384720.2:p.Pro189Leu
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro191Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

14-100594940-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594940
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594938
    reference: chr 14
allele count: 9
allele frequency: 2.996404314822213e-4
allele num: 30036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.18_19delAG
  hgvsp: ENSP00000451821.1:p.Val7ProfsTer105
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.573_574delAG
  hgvsp: ENSP00000376652.3:p.Val192ProfsTer105
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*143_*144delAG
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.567_568delAG
  hgvsp: ENSP00000384720.2:p.Val190ProfsTer105
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.585_586delAG
  hgvsp: ENSP00000437904.2:p.Val196ProfsTer105
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*274_*275delAG
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.255_256delAG
  hgvsp: ENSP00000450979.1:p.Val86ProfsTer105
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val192ProfsTer105
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CAG
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

14-100594940-CAGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594940
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594937
    reference: chr 14
allele count: 107
allele frequency: 3.562391796510854e-3
allele num: 30036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*274_*276delAGT
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*143_*145delAGT
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.18_20delAGT
  hgvsp: ENSP00000451821.1:p.Val7del
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.573_575delAGT
  hgvsp: ENSP00000376652.3:p.Val192del
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.585_587delAGT
  hgvsp: ENSP00000437904.2:p.Val196del
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.255_257delAGT
  hgvsp: ENSP00000450979.1:p.Val86del
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.567_569delAGT
  hgvsp: ENSP00000384720.2:p.Val190del
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.75e1
  variant carriers: 83
hgvs: p.Val192del
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: CAGT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-100594941-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594941
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594941
    reference: chr 14
allele count: 3
allele frequency: 1.360544217687075e-4
allele num: 22050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*143A>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.18A>C
  hgvsp: ENST00000554695.1:c.18A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*274A>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.585A>C
  hgvsp: ENST00000544450.2:c.585A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.255A>C
  hgvsp: ENST00000557384.1:c.255A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.573A>C
  hgvsp: ENST00000392920.3:c.573A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.567A>C
  hgvsp: ENST00000402714.2:c.567A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7997
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro191Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

14-100594942-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594942
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594942
    reference: chr 14
allele count: 3
allele frequency: 1.543051126427322e-4
allele num: 19442
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.574G>C
  hgvsp: ENSP00000376652.3:p.Val192Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.568G>C
  hgvsp: ENSP00000384720.2:p.Val190Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*275G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.19G>C
  hgvsp: ENSP00000451821.1:p.Val7Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*144G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.256G>C
  hgvsp: ENSP00000450979.1:p.Val86Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.586G>C
  hgvsp: ENSP00000437904.2:p.Val196Leu
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9553
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5110
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val192Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

14-100594943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594943
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594943
    reference: chr 14
allele count: 12
allele frequency: 6.071031063442275e-4
allele num: 19766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*276T>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.257T>C
  hgvsp: ENSP00000450979.1:p.Val86Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.569T>C
  hgvsp: ENSP00000384720.2:p.Val190Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.575T>C
  hgvsp: ENSP00000376652.3:p.Val192Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*145T>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.587T>C
  hgvsp: ENSP00000437904.2:p.Val196Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.20T>C
  hgvsp: ENSP00000451821.1:p.Val7Ala
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.75e1
  variant carriers: 12
hgvs: p.Val192Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-100594946-CACCTCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594946
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594939
    reference: chr 14
allele count: 2
allele frequency: 1.002807862013638e-4
allele num: 19944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.261_267delACCTCCA
  hgvsp: ENSP00000450979.1:p.Pro89LeufsTer33
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.579_585delACCTCCA
  hgvsp: ENSP00000376652.3:p.Pro195LeufsTer33
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.591_597delACCTCCA
  hgvsp: ENSP00000437904.2:p.Pro199LeufsTer33
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.24_30delACCTCCA
  hgvsp: ENSP00000451821.1:p.Pro10LeufsTer33
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.573_579delACCTCCA
  hgvsp: ENSP00000384720.2:p.Pro193LeufsTer33
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*149_*155delACCTCCA
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*280_*286delACCTCCA
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4871
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro195LeufsTer33
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: CACCTCCA
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/14-100594947-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594947
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594947
    reference: chr 14
allele count: 20
allele frequency: 1.182172833668282e-3
allele num: 16918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.573A>C
  hgvsp: ENST00000402714.2:c.573A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.261A>C
  hgvsp: ENST00000557384.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*280A>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*149A>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.24A>C
  hgvsp: ENST00000554695.1:c.24A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.591A>C
  hgvsp: ENST00000544450.2:c.591A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.579A>C
  hgvsp: ENST00000392920.3:c.579A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9292
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro193Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-100594949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594949
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594949
    reference: chr 14
allele count: 1
allele frequency: 5.042355788624445e-5
allele num: 19832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.593C>T
  hgvsp: ENSP00000437904.2:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.581C>T
  hgvsp: ENSP00000376652.3:p.Pro194Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.575C>T
  hgvsp: ENSP00000384720.2:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*151C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.26C>T
  hgvsp: ENSP00000451821.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.263C>T
  hgvsp: ENSP00000450979.1:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*282C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro194Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-100594950-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594950
    reference: chr 14
allele count: 14
allele frequency: 8.027522935779817e-4
allele num: 17440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.594T>C
  hgvsp: ENST00000544450.2:c.594T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*283T>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.27T>C
  hgvsp: ENST00000554695.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.264T>C
  hgvsp: ENST00000557384.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.582T>C
  hgvsp: ENST00000392920.3:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.576T>C
  hgvsp: ENST00000402714.2:c.576T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*152T>C
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26080
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro194Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-100594953-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594953
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594953
    reference: chr 14
allele count: 10
allele frequency: 5.988023952095808e-4
allele num: 16700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.579A>C
  hgvsp: ENST00000402714.2:c.579A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.597A>C
  hgvsp: ENST00000544450.2:c.597A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.267A>C
  hgvsp: ENST00000557384.1:c.267A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.30A>C
  hgvsp: ENST00000554695.1:c.30A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*286A>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.585A>C
  hgvsp: ENST00000392920.3:c.585A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*155A>C
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro195Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

14-100594954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594954
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594954
    reference: chr 14
allele count: 6
allele frequency: 3.139388865634157e-4
allele num: 19112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.31C>T
  hgvsp: ENSP00000451821.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*156C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.580C>T
  hgvsp: ENSP00000384720.2:p.Pro194Ser
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*287C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.268C>T
  hgvsp: ENSP00000450979.1:p.Pro90Ser
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.586C>T
  hgvsp: ENSP00000376652.3:p.Pro196Ser
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.598C>T
  hgvsp: ENSP00000437904.2:p.Pro200Ser
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21937
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 12040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro196Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

14-100594956-CACTGGGGCTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594956
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594946
    reference: chr 14
allele count: 2
allele frequency: 1.034126163391934e-4
allele num: 19340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsp: ENSP00000376652.3:p.Thr197ProfsTer30
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsp: ENSP00000450979.1:p.Thr91ProfsTer30
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsp: ENSP00000437904.2:p.Thr201ProfsTer30
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.34_43delACTGGGGCTA
  hgvsp: ENSP00000451821.1:p.Thr12ProfsTer30
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsp: ENSP00000384720.2:p.Thr195ProfsTer30
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr197ProfsTer30
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: CACTGGGGCTA
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

14-100594957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594957
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594957
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 17638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.589A>G
  hgvsp: ENSP00000376652.3:p.Thr197Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*159A>G
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*290A>G
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.34A>G
  hgvsp: ENSP00000451821.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.601A>G
  hgvsp: ENSP00000437904.2:p.Thr201Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.271A>G
  hgvsp: ENSP00000450979.1:p.Thr91Ala
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.583A>G
  hgvsp: ENSP00000384720.2:p.Thr195Ala
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22715
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24961
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr197Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-100594963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594963
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594963
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 19898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.40G>A
  hgvsp: ENSP00000451821.1:p.Ala14Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.589G>A
  hgvsp: ENSP00000384720.2:p.Ala197Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.607G>A
  hgvsp: ENSP00000437904.2:p.Ala203Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*165G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.6G>A
  hgvsp: ENSP00000451761.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.277G>A
  hgvsp: ENSP00000450979.1:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.595G>A
  hgvsp: ENSP00000376652.3:p.Ala199Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*296G>A
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25171
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala199Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-100594970-CACCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594970
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594966
    reference: chr 14
allele count: 2
allele frequency: 8.602890571231934e-5
allele num: 23248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.285_288delACCT
  hgvsp: ENSP00000450979.1:p.Pro97HisfsTer26
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.14_17delACCT
  hgvsp: ENSP00000451761.1:p.Pro7HisfsTer26
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.603_606delACCT
  hgvsp: ENSP00000376652.3:p.Pro203HisfsTer26
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.615_618delACCT
  hgvsp: ENSP00000437904.2:p.Pro207HisfsTer26
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.597_600delACCT
  hgvsp: ENSP00000384720.2:p.Pro201HisfsTer26
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*173_*176delACCT
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.48_51delACCT
  hgvsp: ENSP00000451821.1:p.Pro18HisfsTer26
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*304_*307delACCT
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 29353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro203HisfsTer26
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: CACCT
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-100594979-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594979
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594978
    reference: chr 14
allele count: 1
allele frequency: 3.383178834833209e-5
allele num: 29558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.606delA
  hgvsp: ENSP00000384720.2:p.Pro204HisfsTer24
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.624delA
  hgvsp: ENSP00000437904.2:p.Pro210HisfsTer24
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.612delA
  hgvsp: ENSP00000376652.3:p.Pro206HisfsTer24
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.57delA
  hgvsp: ENSP00000451821.1:p.Pro21HisfsTer24
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.294delA
  hgvsp: ENSP00000450979.1:p.Pro100HisfsTer24
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.23delA
  hgvsp: ENSP00000451761.1:p.Pro10HisfsTer24
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*313delA
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*182delA
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10630
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro206HisfsTer24
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: CA
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

14-100594989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594989
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594989
    reference: chr 14
allele count: 1
allele frequency: 2.496006389776358e-5
allele num: 40064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.633G>A
  hgvsp: ENST00000544450.2:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.621G>A
  hgvsp: ENST00000392920.3:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.66G>A
  hgvsp: ENST00000554695.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*322G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.615G>A
  hgvsp: ENST00000402714.2:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*191G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.32G>A
  hgvsp: ENST00000554031.1:c.32G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.303G>A
  hgvsp: ENST00000557384.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu207Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

14-100594993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594993
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594993
    reference: chr 14
allele count: 1
allele frequency: 2.138945927446954e-5
allele num: 46752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.625G>A
  hgvsp: ENSP00000376652.3:p.Ala209Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.619G>A
  hgvsp: ENSP00000384720.2:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.70G>A
  hgvsp: ENSP00000451821.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.637G>A
  hgvsp: ENSP00000437904.2:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*326G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*195G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.307G>A
  hgvsp: ENSP00000450979.1:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.36G>A
  hgvsp: ENSP00000451761.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala209Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

14-100594995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594995
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594995
    reference: chr 14
allele count: 2
allele frequency: 3.945084424806691e-5
allele num: 50696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.309C>T
  hgvsp: ENST00000557384.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.72C>T
  hgvsp: ENST00000554695.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.627C>T
  hgvsp: ENST00000392920.3:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.621C>T
  hgvsp: ENST00000402714.2:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.639C>T
  hgvsp: ENST00000544450.2:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*328C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.38C>T
  hgvsp: ENST00000554031.1:c.38C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30500
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Ala209Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-100594996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594996
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594996
    reference: chr 14
allele count: 1
allele frequency: 1.819505094614265e-5
allele num: 54960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.73G>A
  hgvsp: ENSP00000451821.1:p.Gly25Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.640G>A
  hgvsp: ENSP00000437904.2:p.Gly214Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.628G>A
  hgvsp: ENSP00000376652.3:p.Gly210Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.39G>A
  hgvsp: ENSP00000451761.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*329G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.310G>A
  hgvsp: ENSP00000450979.1:p.Gly104Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.622G>A
  hgvsp: ENSP00000384720.2:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly210Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-100594998-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100594998
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100594998
    reference: chr 14
allele count: 1
allele frequency: 1.687194196051966e-5
allele num: 59270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*200A>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*331A>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.624A>C
  hgvsp: ENST00000402714.2:c.624A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.312A>C
  hgvsp: ENST00000557384.1:c.312A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.630A>C
  hgvsp: ENST00000392920.3:c.630A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.41A>C
  hgvsp: ENST00000554031.1:c.41A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.75A>C
  hgvsp: ENST00000554695.1:c.75A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.642A>C
  hgvsp: ENST00000544450.2:c.642A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly210Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

14-100595015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595015
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595015
    reference: chr 14
allele count: 1
allele frequency: 1.206476365128007e-5
allele num: 82886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*348G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.92G>A
  hgvsp: ENSP00000451821.1:p.Ser31Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.641G>A
  hgvsp: ENSP00000384720.2:p.Ser214Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.58G>A
  hgvsp: ENSP00000451761.1:p.Ser20Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.659G>A
  hgvsp: ENSP00000437904.2:p.Ser220Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.647G>A
  hgvsp: ENSP00000376652.3:p.Ser216Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*217G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.329G>A
  hgvsp: ENSP00000450979.1:p.Ser110Asn
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser216Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

14-100595015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595015
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595015
    reference: chr 14
allele count: 3
allele frequency: 3.619429095384022e-5
allele num: 82886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*217G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.92G>C
  hgvsp: ENSP00000451821.1:p.Ser31Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.641G>C
  hgvsp: ENSP00000384720.2:p.Ser214Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.659G>C
  hgvsp: ENSP00000437904.2:p.Ser220Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.647G>C
  hgvsp: ENSP00000376652.3:p.Ser216Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.58G>C
  hgvsp: ENSP00000451761.1:p.Ser20Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*348G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.329G>C
  hgvsp: ENSP00000450979.1:p.Ser110Thr
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser216Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

14-100595019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595019
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595019
    reference: chr 14
allele count: 4
allele frequency: 4.520080457432142e-5
allele num: 88494
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.651C>T
  hgvsp: ENST00000392920.3:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.333C>T
  hgvsp: ENST00000557384.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.96C>T
  hgvsp: ENST00000554695.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*352C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.62C>T
  hgvsp: ENST00000554031.1:c.62C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*221C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.645C>T
  hgvsp: ENST00000402714.2:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.663C>T
  hgvsp: ENST00000544450.2:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30117
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His217His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

14-100595020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595020
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595020
    reference: chr 14
allele count: 11
allele frequency: 1.211266985266589e-4
allele num: 90814
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.652G>A
  hgvsp: ENSP00000376652.3:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*353G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.664G>A
  hgvsp: ENSP00000437904.2:p.Asp222Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.63G>A
  hgvsp: ENSP00000451761.1:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*222G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.334G>A
  hgvsp: ENSP00000450979.1:p.Asp112Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.646G>A
  hgvsp: ENSP00000384720.2:p.Asp216Asn
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.97G>A
  hgvsp: ENSP00000451821.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31252
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp218Asn
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-100595022-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595022
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595022
    reference: chr 14
allele count: 1
allele frequency: 1.070778455937467e-5
allele num: 93390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.648C>G
  hgvsp: ENSP00000384720.2:p.Asp216Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.654C>G
  hgvsp: ENSP00000376652.3:p.Asp218Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.99C>G
  hgvsp: ENSP00000451821.1:p.Asp33Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.336C>G
  hgvsp: ENSP00000450979.1:p.Asp112Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*355C>G
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.65C>G
  hgvsp: ENSP00000451761.1:p.Asp22Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*224C>G
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.666C>G
  hgvsp: ENSP00000437904.2:p.Asp222Glu
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp218Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

14-100595032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595032
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595032
    reference: chr 14
allele count: 1
allele frequency: 9.781673057359731e-6
allele num: 102232
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.664A>G
  hgvsp: ENSP00000376652.3:p.Met222Val
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.346A>G
  hgvsp: ENSP00000450979.1:p.Met116Val
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.676A>G
  hgvsp: ENSP00000437904.2:p.Met226Val
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*234A>G
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.75A>G
  hgvsp: ENSP00000451761.1:p.Met26Val
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.109A>G
  hgvsp: ENSP00000451821.1:p.Met37Val
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.658A>G
  hgvsp: ENSP00000384720.2:p.Met220Val
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*365A>G
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met222Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

14-100595046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595046
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595046
    reference: chr 14
allele count: 1
allele frequency: 9.327314106629855e-6
allele num: 107212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.360C>T
  hgvsp: ENST00000557384.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*248C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.678C>T
  hgvsp: ENST00000392920.3:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.672C>T
  hgvsp: ENST00000402714.2:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.690C>T
  hgvsp: ENST00000544450.2:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.123C>T
  hgvsp: ENST00000554695.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.89C>T
  hgvsp: ENST00000554031.1:c.89C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37187
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala226Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-100595047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595047
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595047
    reference: chr 14
allele count: 28
allele frequency: 2.601456815816858e-4
allele num: 107632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*249G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.361G>A
  hgvsp: ENSP00000450979.1:p.Ala121Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.673G>A
  hgvsp: ENSP00000384720.2:p.Ala225Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.679G>A
  hgvsp: ENSP00000376652.3:p.Ala227Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*380G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.90G>A
  hgvsp: ENSP00000451761.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.691G>A
  hgvsp: ENSP00000437904.2:p.Ala231Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.124G>A
  hgvsp: ENSP00000451821.1:p.Ala42Thr
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37092
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala227Thr
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: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-100595047-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595047
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595047
    reference: chr 14
allele count: 1
allele frequency: 9.290917199345919e-6
allele num: 107632
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.679G>C
  hgvsp: ENSP00000376652.3:p.Ala227Pro
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.90G>C
  hgvsp: ENSP00000451761.1:p.Ala31Pro
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.124G>C
  hgvsp: ENSP00000451821.1:p.Ala42Pro
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*249G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.361G>C
  hgvsp: ENSP00000450979.1:p.Ala121Pro
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.673G>C
  hgvsp: ENSP00000384720.2:p.Ala225Pro
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*380G>C
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.691G>C
  hgvsp: ENSP00000437904.2:p.Ala231Pro
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala227Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

14-100595050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595050
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595050
    reference: chr 14
allele count: 1
allele frequency: 9.16976910521393e-6
allele num: 109054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.676G>A
  hgvsp: ENSP00000384720.2:p.Ala226Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.682G>A
  hgvsp: ENSP00000376652.3:p.Ala228Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*252G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.127G>A
  hgvsp: ENSP00000451821.1:p.Ala43Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*383G>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.694G>A
  hgvsp: ENSP00000437904.2:p.Ala232Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.364G>A
  hgvsp: ENSP00000450979.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.93G>A
  hgvsp: ENSP00000451761.1:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala228Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

14-100595052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595052
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595052
    reference: chr 14
allele count: 3
allele frequency: 2.735130009846468e-5
allele num: 109684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000452156
  ensembl transcript: ENST00000553875
  gene symbol: EVL
  hgvsc: ENST00000553875.1:c.*385C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.678C>T
  hgvsp: ENST00000402714.2:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.129C>T
  hgvsp: ENST00000554695.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.95C>T
  hgvsp: ENST00000554031.1:c.95C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.696C>T
  hgvsp: ENST00000544450.2:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.684C>T
  hgvsp: ENST00000392920.3:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.366C>T
  hgvsp: ENST00000557384.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38231
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39554
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala228Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/14-100595079-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595079
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595079
    reference: chr 14
allele count: 1
allele frequency: 8.8467390919707e-6
allele num: 113036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.723C>A
  hgvsp: ENST00000544450.2:c.723C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*281C>A
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.393C>A
  hgvsp: ENST00000557384.1:c.393C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.156C>A
  hgvsp: ENST00000554695.1:c.156C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.711C>A
  hgvsp: ENST00000392920.3:c.711C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.122C>A
  hgvsp: ENST00000554031.1:c.122C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.705C>A
  hgvsp: ENST00000402714.2:c.705C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val237Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-100595080-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595080
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595080
    reference: chr 14
allele count: 1
allele frequency: 8.843609607697478e-6
allele num: 113076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*282C>G
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.394C>G
  hgvsp: ENSP00000450979.1:p.Gln132Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.724C>G
  hgvsp: ENSP00000437904.2:p.Gln242Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.712C>G
  hgvsp: ENSP00000376652.3:p.Gln238Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.123C>G
  hgvsp: ENSP00000451761.1:p.Gln42Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.157C>G
  hgvsp: ENSP00000451821.1:p.Gln53Glu
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.706C>G
  hgvsp: ENSP00000384720.2:p.Gln236Glu
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln238Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

14-100595081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100595081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 100595081
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 113146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000450979
  ensembl transcript: ENST00000557384
  gene symbol: EVL
  hgvsc: ENST00000557384.1:c.395A>G
  hgvsp: ENSP00000450979.1:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000437904
  ensembl transcript: ENST00000544450
  gene symbol: EVL
  hgvsc: ENST00000544450.2:c.725A>G
  hgvsp: ENSP00000437904.2:p.Gln242Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000384720
  ensembl transcript: ENST00000402714
  gene symbol: EVL
  hgvsc: ENST00000402714.2:c.707A>G
  hgvsp: ENSP00000384720.2:p.Gln236Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451761
  ensembl transcript: ENST00000554031
  gene symbol: EVL
  hgvsc: ENST00000554031.1:c.124A>G
  hgvsp: ENSP00000451761.1:p.Gln42Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451821
  ensembl transcript: ENST00000554695
  gene symbol: EVL
  hgvsc: ENST00000554695.1:c.158A>G
  hgvsp: ENSP00000451821.1:p.Gln53Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000376652
  ensembl transcript: ENST00000392920
  gene symbol: EVL
  hgvsc: ENST00000392920.3:c.713A>G
  hgvsp: ENSP00000376652.3:p.Gln238Arg
  variant of: http://identifiers.org/hgnc/20234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196405
  ensembl protein: ENSP00000451226
  ensembl transcript: ENST00000554045
  gene symbol: EVL
  hgvsc: ENST00000554045.1:c.*283A>G
  variant of: http://identifiers.org/hgnc/20234
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln238Arg
num of homozygotes: 0
population: East Asian
reference allele: A

GenotypeQuality
all individuals: 1938
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10802
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.953125e-4
allele num: 10240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.427e1

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 1.877496e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.365e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

GenotypeQuality
all individuals: 3046
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10811
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1335
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.56128024980484e-3
allele num: 10248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.284e0

DP
type: SiteQuality
SIO_000300: 1.876112e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.448e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.792e1

GenotypeQuality
all individuals: 1746
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3344
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10814
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 3930
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524855138761818e-4
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.475308641975309e-4
allele num: 64800
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.757778168395148e-4
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.561147394032526e-4
allele num: 15618
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.108e1

DP
type: SiteQuality
SIO_000300: 1.836022e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 2.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50934283213089e-5
allele num: 66254
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.513e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.172e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.213e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 2.415623e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.213e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 2.415623e6

FS
type: SiteQuality
SIO_000300: 1.513e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

GenotypeQuality
all individuals: 34302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509844184080203e-5
allele num: 66232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.832e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 2.415346e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

DP
type: SiteQuality
SIO_000300: 2.415346e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 1.832e0

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.343e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: -1.21e-1

DP
type: SiteQuality
SIO_000300: 2.415096e6

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 3478
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GenotypeQuality
all individuals: 14506
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.057424068594892e-5
allele num: 66244
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

DP
type: SiteQuality
SIO_000300: 2.414988e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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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: 28
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variant carriers: 1

GenotypeQuality
all individuals: 14470
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.056330374932077e-5
allele num: 66252
num of homozygotes: 0

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

Latino
type: Population
allele count: 18
allele frequency: 1.556016597510373e-3
allele num: 11568
num of homozygotes: 0

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

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

African
type: Population
allele count: 366
allele frequency: 3.544450900639163e-2
allele num: 10326
num of homozygotes: 4

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.008e0

VQSLOD
type: SiteQuality
SIO_000300: 5.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.427875e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeQuality
all individuals: 1035
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.393856e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.919e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -3.325e0

QD
type: SiteQuality
SIO_000300: 6.03e0

FS
type: SiteQuality
SIO_000300: 1.915e0

MQ
type: SiteQuality
SIO_000300: 5.874e1

GenotypeQuality
all individuals: 1034
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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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: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 2.393684e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.114e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

QD
type: SiteQuality
SIO_000300: 9.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.101e0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 35401
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.393277e6

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.583e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.712e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 5.95e0

FS
type: SiteQuality
SIO_000300: 7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 2.391372e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e0

VQSLOD
type: SiteQuality
SIO_000300: -2.205e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.357e0

DP
type: SiteQuality
SIO_000300: 2.390052e6

FS
type: SiteQuality
SIO_000300: 2.801e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 319
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29
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GenotypeQuality
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GenotypeQuality
all individuals: 1021
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.382961e6

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 3.223e0

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.39e0

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.671e1

DP
type: SiteQuality
SIO_000300: 2.355978e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.218e0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522811719558994e-5
allele num: 65668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.426e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 2.352948e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

FS
type: SiteQuality
SIO_000300: 3.651e0

QD
type: SiteQuality
SIO_000300: 1.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 107
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GenotypeQuality
all individuals: 3343
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65590
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.525785779676533e-4
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.576899244020325e-4
allele num: 16138
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 2.337117e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.215040397762585e-5
allele num: 16090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529192280637367e-5
allele num: 65394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.323935e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 287
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.784258608573436e-5
allele num: 11384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

DP
type: SiteQuality
SIO_000300: 2.17176e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.389e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.481e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e0

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
all individuals: 101
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.60647731654029e-5
allele num: 62248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15464
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QD
type: SiteQuality
SIO_000300: 1.141e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

DP
type: SiteQuality
SIO_000300: 1.888296e6

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

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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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.391982182628062e-4
allele num: 7184
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.684617425247281e-5
allele num: 52774
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.937145094967691e-4
allele num: 10214
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 1.281015e6

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 1.3903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.688e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 78
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variant carriers: 2

GenotypeQuality
all individuals: 705
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 1.958096729978461e-4
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4758
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.391982182628062e-4
allele num: 7184
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.057124310288867e-4
allele num: 12324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.789744950164854e-4
allele num: 52774
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.281015e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 1.3903e1

VQSLOD
type: SiteQuality
SIO_000300: -9.688e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.19e-2

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
all individuals: 78
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GenotypeQuality
all individuals: 276
bin: 4.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.894872475082427e-4
allele num: 52774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12324
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.676659528907923e-4
allele num: 7472
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.958096729978461e-4
allele num: 10214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.281015e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 1.3903e1

VQSLOD
type: SiteQuality
SIO_000300: -9.688e-1

QD
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.19e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.18413262285376e-3
allele num: 6756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47318
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 8.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 2.984e1

DP
type: SiteQuality
SIO_000300: 1.045836e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.16767865483419e-4
allele num: 8564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.647989452867502e-4
allele num: 6068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42630
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.363e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.751e0

DP
type: SiteQuality
SIO_000300: 9.75684e5

QD
type: SiteQuality
SIO_000300: 3.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

GenotypeQuality
all individuals: 1346
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 135
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GenotypeQuality
all individuals: 712
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.344995779007598e-5
allele num: 42644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.71144e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

FS
type: SiteQuality
SIO_000300: 2.92e0

QD
type: SiteQuality
SIO_000300: 1.694e1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.529e0

VQSLOD
type: SiteQuality
SIO_000300: -6.032999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 23822
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GenotypeQuality
all individuals: 2114
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variant carriers: 0

GenotypeQuality
all individuals: 1930
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GenotypeQuality
all individuals: 1632
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GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 840
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.534597252496578e-5
allele num: 39454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.33429e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

QD
type: SiteQuality
SIO_000300: 1.914e1

VQSLOD
type: SiteQuality
SIO_000300: -1.526e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
all individuals: 3661
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 226
bin: 4.25e1
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GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 19025
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 237
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GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.115085916957133e-5
allele num: 32706
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.604106512672441e-4
allele num: 6234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4550
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.155172413793103e-4
allele num: 9280
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.508780732563974e-4
allele num: 3986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.62891e5

QD
type: SiteQuality
SIO_000300: 7.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.79e-2

FS
type: SiteQuality
SIO_000300: 9.3015e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
all individuals: 2463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 226
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GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 1533
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GenotypeQuality
all individuals: 3661
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GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 594
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.115085916957133e-5
allele num: 32706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3986
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.79e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.79e0

FS
type: SiteQuality
SIO_000300: 9.3015e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 7.68e0

DP
type: SiteQuality
SIO_000300: 8.62891e5

GenotypeQuality
all individuals: 1786
bin: 1.75e1
variant carriers: 12

GenotypeQuality
all individuals: 149
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 17915
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GenotypeQuality
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variant carriers: 23

GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 107
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variant carriers: 8

GenotypeQuality
all individuals: 216
bin: 9.75e1
variant carriers: 185

Other
type: Population
allele count: 3
allele frequency: 9.74025974025974e-3
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 8.644536652835409e-3
allele num: 5784
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 5.007153075822604e-3
allele num: 4194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.012622720897616e-4
allele num: 1426
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 2.47787610619469e-3
allele num: 5650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 212
allele frequency: 7.349372529986827e-3
allele num: 28846
num of homozygotes: 0

African
type: Population
allele count: 69
allele frequency: 1.997683844817603e-2
allele num: 3454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.315e0

DP
type: SiteQuality
SIO_000300: 8.37355e5

FS
type: SiteQuality
SIO_000300: 1.63713e2

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.246e2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 118
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GenotypeQuality
all individuals: 418
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GenotypeQuality
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GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 1886
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26664
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 9.293680297397769e-4
allele num: 3228
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 7.34901e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.41e-2

QD
type: SiteQuality
SIO_000300: 1.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4509
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GenotypeQuality
all individuals: 5558
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25401
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GenotypeQuality
all individuals: 181
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GenotypeQuality
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 4.849660523763337e-4
allele num: 2062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.2005e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

MQRankSum
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SIO_000300: 6.78e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.773e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 6.203473945409429e-5
allele num: 16120
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1966
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 226
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East Asian
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allele count: 1
allele frequency: 4.240882103477523e-4
allele num: 2358
num of homozygotes: 0

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

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.034e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.406e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1966
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.240694789081886e-4
allele num: 16120
num of homozygotes: 0

East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 226
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 2.10263e2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

African
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allele count: 1
allele frequency: 5.08646998982706e-4
allele num: 1966
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 4.3424317617866e-4
allele num: 16120
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 2358
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South Asian
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allele num: 6540
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Other
type: Population
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allele frequency: 4.424778761061947e-3
allele num: 226
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DP
type: SiteQuality
SIO_000300: 6.04921e5

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.034e-1

FS
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.745e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

Latino
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allele count: 3
allele frequency: 1.3215859030837e-3
allele num: 2270
num of homozygotes: 0

South Asian
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allele count: 11
allele frequency: 1.681957186544342e-3
allele num: 6540
num of homozygotes: 0

East Asian
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allele count: 8
allele frequency: 3.392705682782019e-3
allele num: 2358
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.424778761061947e-3
allele num: 226
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 556
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European (Non-Finnish)
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allele count: 68
allele frequency: 4.218362282878412e-3
allele num: 16120
num of homozygotes: 0

African
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allele count: 16
allele frequency: 8.138351983723296e-3
allele num: 1966
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.745e0

VQSLOD
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SIO_000300: -4.406e1

QD
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SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.034e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 6.04921e5

FS
type: SiteQuality
SIO_000300: 2.10263e2

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.761e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.650709805216243e-4
allele num: 12116
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 5.128205128205128e-4
allele num: 1950
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.029e0

DP
type: SiteQuality
SIO_000300: 5.40723e5

FS
type: SiteQuality
SIO_000300: 3.9564e2

MQ
type: SiteQuality
SIO_000300: 5.785e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.25e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.037e0

QD
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SIO_000300: 5.29e0

MQRankSum
type: SiteQuality
SIO_000300: -1.417e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.984520738241715e-4
allele num: 10078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 242
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East Asian
type: Population
allele count: 1
allele frequency: 5.896226415094339e-4
allele num: 1696
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1216
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African
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e0

BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -3.573e2

QD
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SIO_000300: 5.69e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.79445e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.54e-2

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 236
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African
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allele count: 1
allele frequency: 7.836990595611285e-4
allele num: 1276
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Other
type: Population
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allele frequency: 6.41025641025641e-3
allele num: 156
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.834305717619603e-4
allele num: 1714
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1248
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European (Non-Finnish)
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allele count: 9
allele frequency: 8.865248226950354e-4
allele num: 10152
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.375e0

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.43e-2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.028397565922921e-4
allele num: 9860
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.85e-2

ClippingRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

European (Finnish)
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allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
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allele frequency: 3.52112676056338e-3
allele num: 1136
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Other
type: Population
allele count: 1
allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

Latino
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East Asian
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allele frequency: 2.567394094993581e-3
allele num: 1558
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 11
allele frequency: 1.265240395675178e-3
allele num: 8694
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.43769e5

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.864975755315181e-4
allele num: 5362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: -7.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 2.0e0

VQSLOD
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SIO_000300: -3.012e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 4.2801e5

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.454991816693944e-3
allele num: 1222
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 1.905972045743329e-3
allele num: 1574
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 8.922596475574393e-4
allele num: 8966
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 4246
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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SIO_000300: -8.210000000000001e-2

BaseQRankSum
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SIO_000300: -2.696e0

ReadPosRankSum
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SIO_000300: -2.814e0

VQSLOD
type: SiteQuality
SIO_000300: -4.481e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 8.849557522123894e-4
allele num: 1130
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.331557922769641e-3
allele num: 1502
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 8.162313432835821e-4
allele num: 8576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.815e0

MQ
type: SiteQuality
SIO_000300: 5.62e1

BaseQRankSum
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SIO_000300: -3.01e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.111e1

ClippingRankSum
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SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.84e-2

FS
type: SiteQuality
SIO_000300: 8.6074e1

DP
type: SiteQuality
SIO_000300: 4.11559e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.904e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1120
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

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

South Asian
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allele count: 6
allele frequency: 1.170503316426063e-3
allele num: 5126
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.658e0

QD
type: SiteQuality
SIO_000300: 1.114e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.96e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.457e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.077706212341575e-4
allele num: 9626
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.865300000000001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.807e0

MQ
type: SiteQuality
SIO_000300: 5.642e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.771e0

VQSLOD
type: SiteQuality
SIO_000300: -1.071e1

DP
type: SiteQuality
SIO_000300: 4.16428e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
type: SiteQuality
SIO_000300: -3.767e0

QD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.978e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.11e1

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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

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

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

Latino
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allele frequency: 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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.64446637066272e-4
allele num: 12162
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
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ClippingRankSum
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FS
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DP
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VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.67e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 6.2758880381574e-5
allele num: 15934
num of homozygotes: 0

African
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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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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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22154
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.282994090610637e-4
allele num: 3046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

DP
type: SiteQuality
SIO_000300: 6.27802e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeQuality
all individuals: 759
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2960
bin: 2.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.683843263553408e-4
allele num: 3726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

DP
type: SiteQuality
SIO_000300: 6.8149e5

FS
type: SiteQuality
SIO_000300: 3.233e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.496748024337367e-5
allele num: 28598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.446183953033268e-4
allele num: 4088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.578e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 6.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

DP
type: SiteQuality
SIO_000300: 7.17537e5

GenotypeQuality
all individuals: 3111
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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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.206361421059382e-5
allele num: 31188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4377e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -2.123e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

DP
type: SiteQuality
SIO_000300: 7.5825e5

QD
type: SiteQuality
SIO_000300: 1.125e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 226
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.129471890971039e-4
allele num: 4696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

DP
type: SiteQuality
SIO_000300: 7.8961e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

QD
type: SiteQuality
SIO_000300: 1.301e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 930
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GenotypeQuality
all individuals: 1004
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10772
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.231830500123183e-4
allele num: 8118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47138
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.904e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.059e0

DP
type: SiteQuality
SIO_000300: 1.00105e6

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 716
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.718464926077383e-4
allele num: 6358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.00105e6

MQRankSum
type: SiteQuality
SIO_000300: -1.059e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 2.904e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

GenotypeQuality
all individuals: 151
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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
all individuals: 194
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GenotypeQuality
all individuals: 3742
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.470155836518671e-4
allele num: 6802
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.395201448619285e-4
allele num: 8836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50312
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.387e1

DP
type: SiteQuality
SIO_000300: 1.056589e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 4.728e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 568
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GenotypeQuality
all individuals: 3964
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.69518343287055e-5
allele num: 51572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.5220700152207e-3
allele num: 3942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7078
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.07832e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
all individuals: 31159
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.481764206955047e-5
allele num: 11790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.279999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 1.106309e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 532
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 373
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12988
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.251877816725087e-4
allele num: 7988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.947e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 1.191833e6

QD
type: SiteQuality
SIO_000300: 8.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

VQSLOD
type: SiteQuality
SIO_000300: -5.302e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

GenotypeQuality
all individuals: 6804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 987
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60082
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.204610951008646e-5
allele num: 13880
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.085e0

QD
type: SiteQuality
SIO_000300: 9.41e0

DP
type: SiteQuality
SIO_000300: 1.253705e6

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37060
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.644065547668016e-4
allele num: 60292
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.261243e6

FS
type: SiteQuality
SIO_000300: 2.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 5421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 981
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60292
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.058e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.261243e6

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

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

GenotypeQuality
all individuals: 5973
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38994
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.64009709374795e-5
allele num: 60972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.277197e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

QD
type: SiteQuality
SIO_000300: 3.104e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
all individuals: 1759
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5680
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.265199503689675e-5
allele num: 61252
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.291989664082687e-3
allele num: 774
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.243e1

DP
type: SiteQuality
SIO_000300: 1.28498e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 9.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.201345506967804e-4
allele num: 8324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.326328e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.129e-1

QD
type: SiteQuality
SIO_000300: 7.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.082e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

GenotypeQuality
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62644
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.911067545891998e-5
allele num: 11222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.65e-1

DP
type: SiteQuality
SIO_000300: 1.326986e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.076e1

GenotypeQuality
all individuals: 293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0