1-224475631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475631
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1322A>G
  hgvsp: ENSP00000375747.2:p.Gln441Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1367A>G
  hgvsp: ENSP00000417826.1:p.Gln456Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1073A>G
  hgvsp: ENSP00000341362.4:p.Gln358Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1322A>G
  hgvsp: ENSP00000354779.3:p.Gln441Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.812A>G
  hgvsp: ENSP00000417213.1:p.Gln271Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1640A>G
  hgvsp: ENSP00000281701.6:p.Gln547Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1287A>G
  hgvsp: ENSP00000419420.1:p.Gln430Arg
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln547Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

1-224475644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475644
    reference: chr 1
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1309G>A
  hgvsp: ENSP00000354779.3:p.Glu437Lys
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1627G>A
  hgvsp: ENSP00000281701.6:p.Glu543Lys
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1309G>A
  hgvsp: ENSP00000375747.2:p.Glu437Lys
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1354G>A
  hgvsp: ENSP00000417826.1:p.Glu452Lys
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.799G>A
  hgvsp: ENSP00000417213.1:p.Glu267Lys
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1060G>A
  hgvsp: ENSP00000341362.4:p.Glu354Lys
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1274G>A
  hgvsp: ENSP00000419420.1:p.Glu426Lys
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu543Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-224475670-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475670
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475670
    reference: chr 1
allele count: 3
allele frequency: 2.47390035129385e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.773T>A
  hgvsp: ENSP00000417213.1:p.Leu258Ter
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1601T>A
  hgvsp: ENSP00000281701.6:p.Leu534Ter
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1283T>A
  hgvsp: ENSP00000354779.3:p.Leu428Ter
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1283T>A
  hgvsp: ENSP00000375747.2:p.Leu428Ter
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1034T>A
  hgvsp: ENSP00000341362.4:p.Leu345Ter
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1328T>A
  hgvsp: ENSP00000417826.1:p.Leu443Ter
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1248T>A
  hgvsp: ENSP00000419420.1:p.Leu417Ter
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu534Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-224475676-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475676
    reference: chr 1
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1277T>G
  hgvsp: ENSP00000375747.2:p.Leu426Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1242T>G
  hgvsp: ENSP00000419420.1:p.Leu415Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1322T>G
  hgvsp: ENSP00000417826.1:p.Leu441Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.767T>G
  hgvsp: ENSP00000417213.1:p.Leu256Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1028T>G
  hgvsp: ENSP00000341362.4:p.Leu343Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1277T>G
  hgvsp: ENSP00000354779.3:p.Leu426Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1595T>G
  hgvsp: ENSP00000281701.6:p.Leu532Arg
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu532Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-224475680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475680
    reference: chr 1
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1238C>T
  hgvsp: ENST00000469968.1:c.1238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1273C>T
  hgvsp: ENST00000361463.3:c.1273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1591C>T
  hgvsp: ENST00000281701.6:c.1591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.763C>T
  hgvsp: ENST00000482491.1:c.763C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1024C>T
  hgvsp: ENST00000340871.4:c.1024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1273C>T
  hgvsp: ENST00000391875.2:c.1273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1318C>T
  hgvsp: ENST00000469075.1:c.1318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu531Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-224475681-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475681
    reference: chr 1
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1272G>T
  hgvsp: ENSP00000375747.2:p.Arg424Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1590G>T
  hgvsp: ENSP00000281701.6:p.Arg530Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1272G>T
  hgvsp: ENSP00000354779.3:p.Arg424Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1023G>T
  hgvsp: ENSP00000341362.4:p.Arg341Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1317G>T
  hgvsp: ENSP00000417826.1:p.Arg439Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1237G>T
  hgvsp: ENSP00000419420.1:p.Arg413Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.762G>T
  hgvsp: ENSP00000417213.1:p.Arg254Ser
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg530Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-224475684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475684
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475684
    reference: chr 1
allele count: 2
allele frequency: 1.653357141676174e-5
allele num: 120966
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1587A>G
  hgvsp: ENST00000281701.6:c.1587A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.759A>G
  hgvsp: ENST00000482491.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1269A>G
  hgvsp: ENST00000391875.2:c.1269A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1020A>G
  hgvsp: ENST00000340871.4:c.1020A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1314A>G
  hgvsp: ENST00000469075.1:c.1314A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1234A>G
  hgvsp: ENST00000469968.1:c.1234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1269A>G
  hgvsp: ENST00000361463.3:c.1269A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln529Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-224475701-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475701
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475701
    reference: chr 1
allele count: 30
allele frequency: 2.506265664160401e-4
allele num: 119700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-6T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-6T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-6T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-6T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-6T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-6T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-6T>A
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1576-6T>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-224475704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475704
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475704
    reference: chr 1
allele count: 2
allele frequency: 1.674985762621018e-5
allele num: 119404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-9C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-9C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-9C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-9C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-9C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-9C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-9C>T
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33668
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-224475708-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475708
    reference: chr 1
allele count: 1
allele frequency: 8.429286713758282e-6
allele num: 118634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-13T>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-13T>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-13T>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-13T>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-13T>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-13T>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-13T>G
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42035
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-224475710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475710
    reference: chr 1
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-15A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-15A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-15A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-15A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-15A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-15A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-15A>G
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-224475713-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475714
    reference: chr 1
allele count: 1
allele frequency: 8.467113730271625e-6
allele num: 118104
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-19dupC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-19dupC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-19dupC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-19dupC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-19dupC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-19dupC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-19dupC
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

1-224475713-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475712
    reference: chr 1
allele count: 5
allele frequency: 4.233556865135813e-5
allele num: 118104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-19delC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-19delC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-19delC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-19delC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-19delC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-19delC
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-19delC
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30238
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: AG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

1-224475721-AAAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475721
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475717
    reference: chr 1
allele count: 6
allele frequency: 5.120677294916874e-5
allele num: 117172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-30_1258-27delATTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-30_1009-27delATTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-30_1576-27delATTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-30_1223-27delATTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-30_748-27delATTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-30_1258-27delATTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-30_1303-27delATTT
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25255
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: AAAAT
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-224475725-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475725
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475725
    reference: chr 1
allele count: 4
allele frequency: 3.428238399698315e-5
allele num: 116678
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-30A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-30A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-30A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-30A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-30A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-30A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-30A>T
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23796
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

1-224475725-TAAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475725
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475721
    reference: chr 1
allele count: 2
allele frequency: 1.714119199849158e-5
allele num: 116678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-34_1303-31delCTTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-34_1258-31delCTTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-34_748-31delCTTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-34_1258-31delCTTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-34_1223-31delCTTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-34_1009-31delCTTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-34_1576-31delCTTT
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: TAAAG
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-224475733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475733
    reference: chr 1
allele count: 1
allele frequency: 8.64677907479464e-6
allele num: 115650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-38G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-38G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-38G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-38G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-38G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-38G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-38G>A
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17612
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-224475742-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475742
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 113006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-47T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-47T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-47T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-47T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-47T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-47T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-47T>C
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-224475747-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224475747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224475747
    reference: chr 1
allele count: 3
allele frequency: 2.691258791445385e-5
allele num: 111472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1009-52A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1223-52A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1576-52A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1258-52A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1303-52A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.748-52A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1258-52A>G
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-224477140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477140
    reference: chr 1
allele count: 1
allele frequency: 8.45809016324114e-6
allele num: 118230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+46G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+46G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+46G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+46G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+46G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.371G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+46G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+46G>A
  variant of: http://identifiers.org/hgnc/8070
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-224477152-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477152
    reference: chr 1
allele count: 2
allele frequency: 1.684238892444504e-5
allele num: 118748
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+34T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+34T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+34T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.359T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+34T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+34T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+34T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+34T>C
  variant of: http://identifiers.org/hgnc/8070
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

1-224477162-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477162
    reference: chr 1
allele count: 1
allele frequency: 8.377314233056882e-6
allele num: 119370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.349A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+24A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+24A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+24A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+24A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+24A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+24A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+24A>G
  variant of: http://identifiers.org/hgnc/8070
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

1-224477166-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477166
    reference: chr 1
allele count: 127
allele frequency: 1.060277174820504e-3
allele num: 119780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.345C>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+20C>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+20C>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+20C>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+20C>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+20C>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+20C>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+20C>A
  variant of: http://identifiers.org/hgnc/8070
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 26324
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24969
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

1-224477175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477175
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477175
    reference: chr 1
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+11T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+11T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.336T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+11T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+11T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+11T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+11T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+11T>C
  variant of: http://identifiers.org/hgnc/8070
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-224477179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477179
    reference: chr 1
allele count: 2
allele frequency: 1.654834599281802e-5
allele num: 120858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+7T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+7T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+7T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+7T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+7T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+7T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.332T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+7T>C
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25798
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1575+7T>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-224477180-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477180
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477180
    reference: chr 1
allele count: 5
allele frequency: 4.135717712451819e-5
allele num: 120898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+6T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+6T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+6T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+6T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+6T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.331T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+6T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+6T>C
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1575+6T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-224477185-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477185
    reference: chr 1
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+1G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+1G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+1G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+1G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+1G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+1G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.326G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+1G>T
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1575+1G>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-224477185-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477185
    reference: chr 1
allele count: 2
allele frequency: 1.651418568550385e-5
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+1G>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+1G>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+1G>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+1G>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+1G>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+1G>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.326G>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+1G>C
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1575+1G>C
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-224477185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477185
    reference: chr 1
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1257+1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.747+1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1257+1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1222+1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.1008+1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.326G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1302+1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1575+1G>A
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27238
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1575+1G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-224477200-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477200
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477200
    reference: chr 1
allele count: 162
allele frequency: 1.335862125834914e-3
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.994A>G
  hgvsp: ENSP00000341362.4:p.Thr332Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1243A>G
  hgvsp: ENSP00000354779.3:p.Thr415Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1561A>G
  hgvsp: ENSP00000281701.6:p.Thr521Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1208A>G
  hgvsp: ENSP00000419420.1:p.Thr404Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1243A>G
  hgvsp: ENSP00000375747.2:p.Thr415Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.311A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1288A>G
  hgvsp: ENSP00000417826.1:p.Thr430Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.733A>G
  hgvsp: ENSP00000417213.1:p.Thr245Ala
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26224
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr521Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-224477202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477202
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477202
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1286C>T
  hgvsp: ENSP00000417826.1:p.Pro429Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1206C>T
  hgvsp: ENSP00000419420.1:p.Pro403Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1241C>T
  hgvsp: ENSP00000375747.2:p.Pro414Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1559C>T
  hgvsp: ENSP00000281701.6:p.Pro520Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.309C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.992C>T
  hgvsp: ENSP00000341362.4:p.Pro331Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1241C>T
  hgvsp: ENSP00000354779.3:p.Pro414Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.731C>T
  hgvsp: ENSP00000417213.1:p.Pro244Leu
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro520Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

1-224477207-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477207
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1281T>A
  hgvsp: ENST00000469075.1:c.1281T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1554T>A
  hgvsp: ENST00000281701.6:c.1554T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1201T>A
  hgvsp: ENST00000469968.1:c.1201T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1236T>A
  hgvsp: ENST00000391875.2:c.1236T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1236T>A
  hgvsp: ENST00000361463.3:c.1236T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.987T>A
  hgvsp: ENST00000340871.4:c.987T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.726T>A
  hgvsp: ENST00000482491.1:c.726T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.304T>A
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr518Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-224477208-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477208
    reference: chr 1
allele count: 3
allele frequency: 2.472880741204788e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1280C>A
  hgvsp: ENSP00000417826.1:p.Thr427Asn
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.725C>A
  hgvsp: ENSP00000417213.1:p.Thr242Asn
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.986C>A
  hgvsp: ENSP00000341362.4:p.Thr329Asn
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1235C>A
  hgvsp: ENSP00000375747.2:p.Thr412Asn
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1200C>A
  hgvsp: ENSP00000419420.1:p.Thr401Asn
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1553C>A
  hgvsp: ENSP00000281701.6:p.Thr518Asn
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1235C>A
  hgvsp: ENSP00000354779.3:p.Thr412Asn
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.303C>A
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr518Asn
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-224477216-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477216
    reference: chr 1
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1545G>C
  hgvsp: ENSP00000281701.6:p.Arg515Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.978G>C
  hgvsp: ENSP00000341362.4:p.Arg326Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1192G>C
  hgvsp: ENSP00000419420.1:p.Arg398Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.295G>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.717G>C
  hgvsp: ENSP00000417213.1:p.Arg239Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1272G>C
  hgvsp: ENSP00000417826.1:p.Arg424Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1227G>C
  hgvsp: ENSP00000375747.2:p.Arg409Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1227G>C
  hgvsp: ENSP00000354779.3:p.Arg409Ser
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg515Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

1-224477218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477218
    reference: chr 1
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.715A>G
  hgvsp: ENSP00000417213.1:p.Arg239Gly
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1225A>G
  hgvsp: ENSP00000375747.2:p.Arg409Gly
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1225A>G
  hgvsp: ENSP00000354779.3:p.Arg409Gly
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1543A>G
  hgvsp: ENSP00000281701.6:p.Arg515Gly
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1270A>G
  hgvsp: ENSP00000417826.1:p.Arg424Gly
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1190A>G
  hgvsp: ENSP00000419420.1:p.Arg398Gly
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.976A>G
  hgvsp: ENSP00000341362.4:p.Arg326Gly
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.293A>G
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg515Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-224477219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477219
    reference: chr 1
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1224A>G
  hgvsp: ENST00000361463.3:c.1224A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.975A>G
  hgvsp: ENST00000340871.4:c.975A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.292A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.714A>G
  hgvsp: ENST00000482491.1:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1189A>G
  hgvsp: ENST00000469968.1:c.1189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1542A>G
  hgvsp: ENST00000281701.6:c.1542A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1269A>G
  hgvsp: ENST00000469075.1:c.1269A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1224A>G
  hgvsp: ENST00000391875.2:c.1224A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu514Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-224477241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477241
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477241
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1202C>T
  hgvsp: ENSP00000354779.3:p.Pro401Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.953C>T
  hgvsp: ENSP00000341362.4:p.Pro318Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.270C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1520C>T
  hgvsp: ENSP00000281701.6:p.Pro507Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1247C>T
  hgvsp: ENSP00000417826.1:p.Pro416Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1167C>T
  hgvsp: ENSP00000419420.1:p.Pro390Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.692C>T
  hgvsp: ENSP00000417213.1:p.Pro231Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1202C>T
  hgvsp: ENSP00000375747.2:p.Pro401Leu
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro507Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-224477243-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477242
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.689delT
  hgvsp: ENSP00000417213.1:p.Leu230CysfsTer30
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1517delT
  hgvsp: ENSP00000281701.6:p.Leu506CysfsTer30
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.267delT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1199delT
  hgvsp: ENSP00000354779.3:p.Leu400CysfsTer30
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.950delT
  hgvsp: ENSP00000341362.4:p.Leu317CysfsTer30
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1199delT
  hgvsp: ENSP00000375747.2:p.Leu400CysfsTer30
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1244delT
  hgvsp: ENSP00000417826.1:p.Leu415CysfsTer30
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1164delT
  hgvsp: ENSP00000419420.1:p.Leu389CysfsTer30
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu506CysfsTer30
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: CA
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-224477246-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477246
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1515T>A
  hgvsp: ENSP00000281701.6:p.Asp505Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.265T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1197T>A
  hgvsp: ENSP00000375747.2:p.Asp399Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.687T>A
  hgvsp: ENSP00000417213.1:p.Asp229Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1197T>A
  hgvsp: ENSP00000354779.3:p.Asp399Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1242T>A
  hgvsp: ENSP00000417826.1:p.Asp414Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.948T>A
  hgvsp: ENSP00000341362.4:p.Asp316Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1162T>A
  hgvsp: ENSP00000419420.1:p.Asp388Glu
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp505Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-224477247-TCTTCCATTTCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477236
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsp: ENSP00000417213.1:p.Glu226PhefsTer4
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsp: ENSP00000417826.1:p.Glu411PhefsTer4
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsp: ENSP00000281701.6:p.Glu502PhefsTer4
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsp: ENSP00000419420.1:p.Glu385PhefsTer4
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsp: ENSP00000354779.3:p.Glu396PhefsTer4
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsp: ENSP00000341362.4:p.Glu313PhefsTer4
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsp: ENSP00000375747.2:p.Glu396PhefsTer4
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu502PhefsTer4
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: TCTTCCATTTCA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-224477259-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477259
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1149C>G
  hgvsp: ENSP00000419420.1:p.Pro384Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.674C>G
  hgvsp: ENSP00000417213.1:p.Pro225Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1502C>G
  hgvsp: ENSP00000281701.6:p.Pro501Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.935C>G
  hgvsp: ENSP00000341362.4:p.Pro312Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.252C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1229C>G
  hgvsp: ENSP00000417826.1:p.Pro410Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1184C>G
  hgvsp: ENSP00000375747.2:p.Pro395Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1184C>G
  hgvsp: ENSP00000354779.3:p.Pro395Arg
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro501Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-224477300-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477300
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.894T>C
  hgvsp: ENST00000340871.4:c.894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.633T>C
  hgvsp: ENST00000482491.1:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1143T>C
  hgvsp: ENST00000361463.3:c.1143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.211T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1461T>C
  hgvsp: ENST00000281701.6:c.1461T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1188T>C
  hgvsp: ENST00000469075.1:c.1188T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1108T>C
  hgvsp: ENST00000469968.1:c.1108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1143T>C
  hgvsp: ENST00000391875.2:c.1143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn487Asn
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-224477301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477301
    reference: chr 1
allele count: 18
allele frequency: 1.482823955844798e-4
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.632A>G
  hgvsp: ENSP00000417213.1:p.Asn211Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1460A>G
  hgvsp: ENSP00000281701.6:p.Asn487Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1187A>G
  hgvsp: ENSP00000417826.1:p.Asn396Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1107A>G
  hgvsp: ENSP00000419420.1:p.Asn370Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1142A>G
  hgvsp: ENSP00000354779.3:p.Asn381Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.210A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1142A>G
  hgvsp: ENSP00000375747.2:p.Asn381Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.893A>G
  hgvsp: ENSP00000341362.4:p.Asn298Ser
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn487Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

1-224477303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477303
    reference: chr 1
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1140C>T
  hgvsp: ENST00000391875.2:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1458C>T
  hgvsp: ENST00000281701.6:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.208C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.891C>T
  hgvsp: ENST00000340871.4:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1185C>T
  hgvsp: ENST00000469075.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1140C>T
  hgvsp: ENST00000361463.3:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.630C>T
  hgvsp: ENST00000482491.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1105C>T
  hgvsp: ENST00000469968.1:c.1105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val486Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-224477308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477308
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.625G>A
  hgvsp: ENSP00000417213.1:p.Ala209Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1135G>A
  hgvsp: ENSP00000375747.2:p.Ala379Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1100G>A
  hgvsp: ENSP00000419420.1:p.Ala368Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1453G>A
  hgvsp: ENSP00000281701.6:p.Ala485Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1180G>A
  hgvsp: ENSP00000417826.1:p.Ala394Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1135G>A
  hgvsp: ENSP00000354779.3:p.Ala379Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.203G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.886G>A
  hgvsp: ENSP00000341362.4:p.Ala296Thr
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala485Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-224477310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477310
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477310
    reference: chr 1
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1098G>A
  hgvsp: ENSP00000419420.1:p.Cys367Tyr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1133G>A
  hgvsp: ENSP00000375747.2:p.Cys378Tyr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1133G>A
  hgvsp: ENSP00000354779.3:p.Cys378Tyr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.201G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.623G>A
  hgvsp: ENSP00000417213.1:p.Cys208Tyr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1178G>A
  hgvsp: ENSP00000417826.1:p.Cys393Tyr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.884G>A
  hgvsp: ENSP00000341362.4:p.Cys295Tyr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1451G>A
  hgvsp: ENSP00000281701.6:p.Cys484Tyr
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys484Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

1-224477315-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477315
    reference: chr 1
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1093A>T
  hgvsp: ENST00000469968.1:c.1093A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.196A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.879A>T
  hgvsp: ENST00000340871.4:c.879A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1446A>T
  hgvsp: ENST00000281701.6:c.1446A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1128A>T
  hgvsp: ENST00000361463.3:c.1128A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1128A>T
  hgvsp: ENST00000391875.2:c.1128A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1173A>T
  hgvsp: ENST00000469075.1:c.1173A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.618A>T
  hgvsp: ENST00000482491.1:c.618A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala482Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-224477315-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477315
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1446A>C
  hgvsp: ENST00000281701.6:c.1446A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1173A>C
  hgvsp: ENST00000469075.1:c.1173A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1128A>C
  hgvsp: ENST00000361463.3:c.1128A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1093A>C
  hgvsp: ENST00000469968.1:c.1093A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.196A>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.879A>C
  hgvsp: ENST00000340871.4:c.879A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.618A>C
  hgvsp: ENST00000482491.1:c.618A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1128A>C
  hgvsp: ENST00000391875.2:c.1128A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala482Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-224477320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477320
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477320
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.191G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1088G>A
  hgvsp: ENSP00000419420.1:p.Ala364Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1123G>A
  hgvsp: ENSP00000375747.2:p.Ala375Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1168G>A
  hgvsp: ENSP00000417826.1:p.Ala390Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.613G>A
  hgvsp: ENSP00000417213.1:p.Ala205Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1441G>A
  hgvsp: ENSP00000281701.6:p.Ala481Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.874G>A
  hgvsp: ENSP00000341362.4:p.Ala292Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1123G>A
  hgvsp: ENSP00000354779.3:p.Ala375Thr
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala481Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-224477325-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477325
    reference: chr 1
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.608G>T
  hgvsp: ENSP00000417213.1:p.Arg203Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1083G>T
  hgvsp: ENSP00000419420.1:p.Arg362Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1118G>T
  hgvsp: ENSP00000354779.3:p.Arg373Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1118G>T
  hgvsp: ENSP00000375747.2:p.Arg373Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1163G>T
  hgvsp: ENSP00000417826.1:p.Arg388Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.186G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1436G>T
  hgvsp: ENSP00000281701.6:p.Arg479Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.869G>T
  hgvsp: ENSP00000341362.4:p.Arg290Leu
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg479Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-224477325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477325
    reference: chr 1
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1083G>A
  hgvsp: ENSP00000419420.1:p.Arg362Gln
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1436G>A
  hgvsp: ENSP00000281701.6:p.Arg479Gln
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.869G>A
  hgvsp: ENSP00000341362.4:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1118G>A
  hgvsp: ENSP00000354779.3:p.Arg373Gln
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1163G>A
  hgvsp: ENSP00000417826.1:p.Arg388Gln
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.186G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.608G>A
  hgvsp: ENSP00000417213.1:p.Arg203Gln
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1118G>A
  hgvsp: ENSP00000375747.2:p.Arg373Gln
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg479Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-224477352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477352
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477352
    reference: chr 1
allele count: 5
allele frequency: 4.124936063491016e-5
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1136T>C
  hgvsp: ENSP00000417826.1:p.Val379Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1091T>C
  hgvsp: ENSP00000375747.2:p.Val364Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1091T>C
  hgvsp: ENSP00000354779.3:p.Val364Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.159T>C
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1056T>C
  hgvsp: ENSP00000419420.1:p.Val353Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.842T>C
  hgvsp: ENSP00000341362.4:p.Val281Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.581T>C
  hgvsp: ENSP00000417213.1:p.Val194Ala
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1409T>C
  hgvsp: ENSP00000281701.6:p.Val470Ala
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val470Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-224477357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477357
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477357
    reference: chr 1
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1404C>T
  hgvsp: ENST00000281701.6:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1086C>T
  hgvsp: ENST00000391875.2:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1051C>T
  hgvsp: ENST00000469968.1:c.1051C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.837C>T
  hgvsp: ENST00000340871.4:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1131C>T
  hgvsp: ENST00000469075.1:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.154C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1086C>T
  hgvsp: ENST00000361463.3:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.576C>T
  hgvsp: ENST00000482491.1:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26664
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly468Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-224477358-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477358
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477358
    reference: chr 1
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1085G>T
  hgvsp: ENSP00000354779.3:p.Gly362Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.575G>T
  hgvsp: ENSP00000417213.1:p.Gly192Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.153G>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1130G>T
  hgvsp: ENSP00000417826.1:p.Gly377Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1085G>T
  hgvsp: ENSP00000375747.2:p.Gly362Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.836G>T
  hgvsp: ENSP00000341362.4:p.Gly279Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1403G>T
  hgvsp: ENSP00000281701.6:p.Gly468Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1050G>T
  hgvsp: ENSP00000419420.1:p.Gly351Val
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly468Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-224477365-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477365
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477365
    reference: chr 1
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1078A>T
  hgvsp: ENSP00000354779.3:p.Thr360Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1078A>T
  hgvsp: ENSP00000375747.2:p.Thr360Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.568A>T
  hgvsp: ENSP00000417213.1:p.Thr190Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1123A>T
  hgvsp: ENSP00000417826.1:p.Thr375Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1396A>T
  hgvsp: ENSP00000281701.6:p.Thr466Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1043A>T
  hgvsp: ENSP00000419420.1:p.Thr349Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.829A>T
  hgvsp: ENSP00000341362.4:p.Thr277Ser
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.146A>T
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr466Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

1-224477368-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477368
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477368
    reference: chr 1
allele count: 3
allele frequency: 2.480609899287238e-5
allele num: 120938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1075C>G
  hgvsp: ENSP00000375747.2:p.Leu359Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.565C>G
  hgvsp: ENSP00000417213.1:p.Leu189Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.826C>G
  hgvsp: ENSP00000341362.4:p.Leu276Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1075C>G
  hgvsp: ENSP00000354779.3:p.Leu359Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1120C>G
  hgvsp: ENSP00000417826.1:p.Leu374Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.143C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1393C>G
  hgvsp: ENSP00000281701.6:p.Leu465Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1040C>G
  hgvsp: ENSP00000419420.1:p.Leu348Val
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48987
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu465Val
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-224477370-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477370
    reference: chr 1
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1073A>G
  hgvsp: ENSP00000375747.2:p.His358Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1038A>G
  hgvsp: ENSP00000419420.1:p.His347Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.141A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1118A>G
  hgvsp: ENSP00000417826.1:p.His373Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1073A>G
  hgvsp: ENSP00000354779.3:p.His358Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1391A>G
  hgvsp: ENSP00000281701.6:p.His464Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.563A>G
  hgvsp: ENSP00000417213.1:p.His188Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.824A>G
  hgvsp: ENSP00000341362.4:p.His275Arg
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His464Arg
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: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-224477395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477395
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477395
    reference: chr 1
allele count: 1
allele frequency: 8.409155888931868e-6
allele num: 118918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1048G>A
  hgvsp: ENSP00000354779.3:p.Ala350Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.538G>A
  hgvsp: ENSP00000417213.1:p.Ala180Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1366G>A
  hgvsp: ENSP00000281701.6:p.Ala456Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*398G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.116G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1013G>A
  hgvsp: ENSP00000419420.1:p.Ala339Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1048G>A
  hgvsp: ENSP00000375747.2:p.Ala350Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.799G>A
  hgvsp: ENSP00000341362.4:p.Ala267Thr
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1093G>A
  hgvsp: ENSP00000417826.1:p.Ala365Thr
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala456Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

1-224477397-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477397
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477397
    reference: chr 1
allele count: 1
allele frequency: 8.427723840345199e-6
allele num: 118656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*396A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.114A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1011A>G
  hgvsp: ENSP00000419420.1:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.797A>G
  hgvsp: ENSP00000341362.4:p.Gln266Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1091A>G
  hgvsp: ENSP00000417826.1:p.Gln364Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.536A>G
  hgvsp: ENSP00000417213.1:p.Gln179Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1046A>G
  hgvsp: ENSP00000375747.2:p.Gln349Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1364A>G
  hgvsp: ENSP00000281701.6:p.Gln455Arg
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1046A>G
  hgvsp: ENSP00000354779.3:p.Gln349Arg
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln455Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-224477398-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477398
    reference: chr 1
allele count: 2
allele frequency: 1.685857342751656e-5
allele num: 118634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.535C>G
  hgvsp: ENSP00000417213.1:p.Gln179Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.113C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1090C>G
  hgvsp: ENSP00000417826.1:p.Gln364Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1045C>G
  hgvsp: ENSP00000375747.2:p.Gln349Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1010C>G
  hgvsp: ENSP00000419420.1:p.Gln338Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1363C>G
  hgvsp: ENSP00000281701.6:p.Gln455Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*395C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1045C>G
  hgvsp: ENSP00000354779.3:p.Gln349Glu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.796C>G
  hgvsp: ENSP00000341362.4:p.Gln266Glu
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln455Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-224477400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477400
    reference: chr 1
allele count: 1
allele frequency: 8.460666362082677e-6
allele num: 118194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1008C>T
  hgvsp: ENSP00000419420.1:p.Pro337Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1088C>T
  hgvsp: ENSP00000417826.1:p.Pro363Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*393C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1361C>T
  hgvsp: ENSP00000281701.6:p.Pro454Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1043C>T
  hgvsp: ENSP00000375747.2:p.Pro348Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.533C>T
  hgvsp: ENSP00000417213.1:p.Pro178Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.111C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1043C>T
  hgvsp: ENSP00000354779.3:p.Pro348Leu
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.794C>T
  hgvsp: ENSP00000341362.4:p.Pro265Leu
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45811
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro454Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-224477406-C-CAACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477410
    reference: chr 1
allele count: 1
allele frequency: 8.561937052638789e-6
allele num: 116796
alternate allele: CAACA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.787_788insTGTT
  hgvsp: ENSP00000341362.4:p.Arg263MetfsTer8
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.526_527insTGTT
  hgvsp: ENSP00000417213.1:p.Arg176MetfsTer8
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1001_1002insTGTT
  hgvsp: ENSP00000419420.1:p.Arg335MetfsTer8
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.104_105insTGTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1354_1355insTGTT
  hgvsp: ENSP00000281701.6:p.Arg452MetfsTer8
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*386_*387insTGTT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1036_1037insTGTT
  hgvsp: ENSP00000354779.3:p.Arg346MetfsTer8
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1036_1037insTGTT
  hgvsp: ENSP00000375747.2:p.Arg346MetfsTer8
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1081_1082insTGTT
  hgvsp: ENSP00000417826.1:p.Arg361MetfsTer8
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg452MetfsTer8
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-224477407-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477407
    reference: chr 1
allele count: 1
allele frequency: 8.561643835616438e-6
allele num: 116800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.787A>T
  hgvsp: ENSP00000341362.4:p.Arg263Trp
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1354A>T
  hgvsp: ENSP00000281701.6:p.Arg452Trp
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*386A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1036A>T
  hgvsp: ENSP00000375747.2:p.Arg346Trp
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.1001A>T
  hgvsp: ENSP00000419420.1:p.Arg335Trp
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1036A>T
  hgvsp: ENSP00000354779.3:p.Arg346Trp
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.104A>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.526A>T
  hgvsp: ENSP00000417213.1:p.Arg176Trp
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1081A>T
  hgvsp: ENSP00000417826.1:p.Arg361Trp
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg452Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-224477407-T-TGGCAAAATCCCGTCTCTACTAAACATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477434
    reference: chr 1
allele count: 1
allele frequency: 8.561643835616438e-6
allele num: 116800
alternate allele: TGGCAAAATCCCGTCTCTACTAAACATA
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24465
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-224477434-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477434
    reference: chr 1
allele count: 2
allele frequency: 1.857389624621557e-5
allele num: 107678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1009A>G
  hgvsp: ENSP00000375747.2:p.Ile337Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1327A>G
  hgvsp: ENSP00000281701.6:p.Ile443Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1054A>G
  hgvsp: ENSP00000417826.1:p.Ile352Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.760A>G
  hgvsp: ENSP00000341362.4:p.Ile254Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1009A>G
  hgvsp: ENSP00000354779.3:p.Ile337Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.499A>G
  hgvsp: ENSP00000417213.1:p.Ile167Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.974A>G
  hgvsp: ENSP00000419420.1:p.Ile326Val
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*359A>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.77A>G
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18515
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile443Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-224477436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477436
    reference: chr 1
allele count: 1
allele frequency: 9.373301089177587e-6
allele num: 106686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.498-1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1008-1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.973-1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.76-1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1326-1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.759-1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1053-1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*358-1G>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1008-1G>A
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18423
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1326-1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-224477446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477446
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477446
    reference: chr 1
allele count: 14
allele frequency: 1.365374112506827e-4
allele num: 102536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.973-11C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1053-11C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.76-11C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.759-11C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1326-11C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1008-11C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.498-11C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*358-11C>T
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1008-11C>T
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15386
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15080
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

1-224477447-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477447
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477447
    reference: chr 1
allele count: 15
allele frequency: 1.468227555694765e-4
allele num: 102164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.498-12T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.759-12T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.76-12T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1053-12T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1008-12T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*358-12T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.973-12T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1326-12T>A
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1008-12T>A
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14606
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12926
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16232
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-224477448-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477446
    reference: chr 1
allele count: 2
allele frequency: 1.961438126434302e-5
allele num: 101966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.498-15_498-14delCT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1053-15_1053-14delCT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1008-15_1008-14delCT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*358-15_*358-14delCT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.759-15_759-14delCT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1326-15_1326-14delCT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.973-15_973-14delCT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.76-15_76-14delCT
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1008-15_1008-14delCT
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: CAG
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-224477458-AATTTCTGAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477458
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477449
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 99438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: AATTTCTGAT
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-224477472-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224477472
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 224477472
    reference: chr 1
allele count: 1
allele frequency: 1.077052323201861e-5
allele num: 92846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417826
  ensembl transcript: ENST00000469075
  gene symbol: NVL
  hgvsc: ENST00000469075.1:c.1053-37C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000417213
  ensembl transcript: ENST00000482491
  gene symbol: NVL
  hgvsc: ENST00000482491.1:c.498-37C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419930
  ensembl transcript: ENST00000467882
  gene symbol: NVL
  hgvsc: ENST00000467882.1:c.*358-37C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000341362
  ensembl transcript: ENST00000340871
  gene symbol: NVL
  hgvsc: ENST00000340871.4:c.759-37C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000354779
  ensembl transcript: ENST00000361463
  gene symbol: NVL
  hgvsc: ENST00000361463.3:c.1008-37C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl transcript: ENST00000462893
  gene symbol: NVL
  hgvsc: ENST00000462893.1:n.76-37C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000419420
  ensembl transcript: ENST00000469968
  gene symbol: NVL
  hgvsc: ENST00000469968.1:c.973-37C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000375747
  ensembl transcript: ENST00000391875
  gene symbol: NVL
  hgvsc: ENST00000391875.2:c.1008-37C>G
  variant of: http://identifiers.org/hgnc/8070
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143748
  ensembl protein: ENSP00000281701
  ensembl transcript: ENST00000281701
  gene symbol: NVL
  hgvsc: ENST00000281701.6:c.1326-37C>G
  variant of: http://identifiers.org/hgnc/8070
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 5697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.777e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

DP
type: SiteQuality
SIO_000300: 1.516304e6

FS
type: SiteQuality
SIO_000300: 3.62e0

QD
type: SiteQuality
SIO_000300: 1.12e1

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48798
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
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: 10402
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.234e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 1.51638e6

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
all individuals: 159
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 805
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.684e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.137e0

DP
type: SiteQuality
SIO_000300: 1.514608e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.99e0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48546
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.513151e6

FS
type: SiteQuality
SIO_000300: 2.958e0

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.512035e6

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 5.531e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

QD
type: SiteQuality
SIO_000300: 4.8e0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5644
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
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: 11538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.586e0

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.347e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.351e0

DP
type: SiteQuality
SIO_000300: 1.511756e6

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5621
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.510393e6

FS
type: SiteQuality
SIO_000300: 3.95e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.074e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520681265206813e-4
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.392608300514996e-4
allele num: 66020
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

QD
type: SiteQuality
SIO_000300: 1.34e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.633e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.481201e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 2334
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65858
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759633996128805e-4
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
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: 6572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.925e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e0

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: -2.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.472389e6

GenotypeQuality
all individuals: 3662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527883880825057e-5
allele num: 65450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.441708e6

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

QD
type: SiteQuality
SIO_000300: 1.438e1

FS
type: SiteQuality
SIO_000300: 3.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

GenotypeQuality
all individuals: 998
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42449
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GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527790509365356e-5
allele num: 65454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.542e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

DP
type: SiteQuality
SIO_000300: 1.441085e6

GenotypeQuality
all individuals: 1287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39833
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
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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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65162
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.164468006411046e-5
allele num: 16222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.253e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.956e0

MQ
type: SiteQuality
SIO_000300: 6.077e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

DP
type: SiteQuality
SIO_000300: 1.416235e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.673183757404622e-5
allele num: 65162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.956e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
type: SiteQuality
SIO_000300: 1.253e1

MQ
type: SiteQuality
SIO_000300: 6.077e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

DP
type: SiteQuality
SIO_000300: 1.416235e6

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

GenotypeQuality
all individuals: 522
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33788
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variant carriers: 0

GenotypeQuality
all individuals: 329
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variant carriers: 0

GenotypeQuality
all individuals: 2081
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variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.281891030599301e-5
allele num: 64642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 5.551e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

QD
type: SiteQuality
SIO_000300: 1.474e1

MQRankSum
type: SiteQuality
SIO_000300: -1.508e0

DP
type: SiteQuality
SIO_000300: 1.35355e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 816
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 112
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4013
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6642
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.044059302568386e-4
allele num: 9578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.662294470518758e-5
allele num: 64346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.575e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

DP
type: SiteQuality
SIO_000300: 1.336275e6

QD
type: SiteQuality
SIO_000300: 6.9e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
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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: 1671
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.108196313679172e-5
allele num: 64346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.336275e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.777e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
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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: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 943
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567496394758292e-5
allele num: 63796
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.225e1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.923e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.261151e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.463e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.088e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 767
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 1669
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15794
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.211244e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.399e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

QD
type: SiteQuality
SIO_000300: 6.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.2605151613955e-5
allele num: 61340
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.10692937790569e-4
allele num: 9034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15632
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

DP
type: SiteQuality
SIO_000300: 1.210042e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.572e1

GenotypeQuality
all individuals: 1217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14788
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65682
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.928e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.133e0

DP
type: SiteQuality
SIO_000300: 1.459622e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
all individuals: 1483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.328021248339973e-4
allele num: 15060
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.488412e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.943e1

VQSLOD
type: SiteQuality
SIO_000300: -1.9e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 250
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.490977541217708e-5
allele num: 15406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.517034e6

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 1.407e1

FS
type: SiteQuality
SIO_000300: 1.817e0

MQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

GenotypeQuality
all individuals: 219
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 9.75e1
variant carriers: 127

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15646
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.930874686232864e-4
allele num: 10358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 46
allele frequency: 6.965475469412477e-3
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.428868841082581e-3
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.256016446970613e-4
allele num: 66152
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.36322869955157e-3
allele num: 892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

DP
type: SiteQuality
SIO_000300: 1.531422e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

QD
type: SiteQuality
SIO_000300: 1.35e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.836e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 6.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

GenotypeQuality
all individuals: 434
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
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variant carriers: 0

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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.547628e6

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.648e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 83
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GenotypeQuality
all individuals: 73
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007790176557283e-5
allele num: 66494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.444e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

DP
type: SiteQuality
SIO_000300: 1.55165e6

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.396e1

GenotypeQuality
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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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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.517892584350755e-5
allele num: 66508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
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: 8632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.531e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.552592e6

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 7.25e1
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GenotypeQuality
all individuals: 217
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GenotypeQuality
all individuals: 837
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.117e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 2.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.556295e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
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GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218175173589962e-4
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

FS
type: SiteQuality
SIO_000300: 2.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

DP
type: SiteQuality
SIO_000300: 1.556295e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.117e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.117e1

FS
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.556295e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 162

GenotypeQuality
all individuals: 6514
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.020193836828998e-3
allele num: 66654
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 91
allele frequency: 1.376285541439806e-2
allele num: 6612
num of homozygotes: 0

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

Other
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 1.564843e6

GenotypeQuality
all individuals: 6531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 198
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variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 1.559507e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

FS
type: SiteQuality
SIO_000300: 6.781e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 783
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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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: 49469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6553
bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

FS
type: SiteQuality
SIO_000300: 9.276999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.804e0

MQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.56011e6

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
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GenotypeQuality
all individuals: 1500
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GenotypeQuality
all individuals: 1253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.469812630117973e-4
allele num: 8646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

DP
type: SiteQuality
SIO_000300: 1.560356e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.279e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49734656552634e-5
allele num: 66706
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.561298e6

QD
type: SiteQuality
SIO_000300: 1.262e1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.21e-2

DP
type: SiteQuality
SIO_000300: 1.561135e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

QD
type: SiteQuality
SIO_000300: 8.75e0

GenotypeQuality
all individuals: 6571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 781
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 49545
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

DP
type: SiteQuality
SIO_000300: 1.561151e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 4.472e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
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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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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.897e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.14e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.561963e6

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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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: 908
num of homozygotes: 0

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

East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.42e1

DP
type: SiteQuality
SIO_000300: 1.562069e6

BaseQRankSum
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SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.631e0

MQRankSum
type: SiteQuality
SIO_000300: -5.155e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.022e1

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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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.562253e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.978e0

MQRankSum
type: SiteQuality
SIO_000300: -1.646e0

VQSLOD
type: SiteQuality
SIO_000300: -4.757e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.392e0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.008e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.425e1

QD
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.066e0

DP
type: SiteQuality
SIO_000300: 1.562211e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.253e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.562612e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 9.84e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 908
num of homozygotes: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.994664748373947e-5
allele num: 66726
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 14
allele frequency: 1.617749017795239e-3
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.563772e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 1.562671e6

ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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African
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allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16510
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Other
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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South Asian
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Latino
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African
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allele num: 10402
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Other
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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FS
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VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10402
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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SIO_000300: 1.34e-1

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

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

African
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
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VQSLOD
type: SiteQuality
SIO_000300: -3.381e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 3.944e0

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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SIO_000300: 8.48e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

South Asian
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allele num: 16510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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African
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European (Non-Finnish)
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allele count: 1
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allele num: 66704
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European (Finnish)
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East Asian
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Other
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66632
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African
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Other
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European (Finnish)
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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MQ
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8642
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.513585893539554e-5
allele num: 66466
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

QD
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: -6.899999999999999e-1

ClippingRankSum
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DP
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MQRankSum
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SIO_000300: -6.53e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
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FS
type: SiteQuality
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DP
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SIO_000300: 1.552911e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.532848953064165e-5
allele num: 65238
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.502e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

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

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.53666482266888e-5
allele num: 65076
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Latino
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VQSLOD
type: SiteQuality
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65056
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European (Finnish)
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East Asian
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African
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South Asian
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Other
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 64770
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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DP
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.564798297499452e-5
allele num: 63906
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

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

BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.564798297499452e-5
allele num: 63906
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58306
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.31250820317627e-4
allele num: 15238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

FS
type: SiteQuality
SIO_000300: 4.508e0

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

InbreedingCoeff
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SIO_000300: -2.2e-3

BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

QD
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ReadPosRankSum
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SIO_000300: 7.18e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.73358296928091e-5
allele num: 57684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 2.156e0

QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.6e-3

MQRankSum
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 12
allele frequency: 2.171552660152009e-4
allele num: 55260
num of homozygotes: 0

East Asian
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African
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European (Finnish)
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allele frequency: 3.259452411994785e-4
allele num: 6136
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Latino
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Other
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South Asian
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.017501017501017e-4
allele num: 9828
num of homozygotes: 0

European (Finnish)
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African
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.270971021860702e-4
allele num: 55076
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QD
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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Other
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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FS
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DP
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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