17-48801287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801287
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801287
    reference: chr 17
allele count: 72
allele frequency: 7.882636303919423e-3
allele num: 9134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1181C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.207C>T
  hgvsp: ENST00000505619.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4095C>T
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Cys69Cys
num of homozygotes: 1
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-48801288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801288
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801288
    reference: chr 17
allele count: 5
allele frequency: 5.399568034557236e-4
allele num: 9260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.208G>A
  hgvsp: ENSP00000420933.1:p.Ala70Thr
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1182G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4096G>A
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala70Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-48801294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801294
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801294
    reference: chr 17
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1188C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.214C>T
  hgvsp: ENST00000505619.1:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4102C>T
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu72Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-48801297-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801297
    reference: chr 17
allele count: 1
allele frequency: 1.006846556584777e-4
allele num: 9932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.217G>C
  hgvsp: ENSP00000420933.1:p.Ala73Pro
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1191G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4105G>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4105G>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala73Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-48801306-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801306
    reference: chr 17
allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1200A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.226A>G
  hgvsp: ENSP00000420933.1:p.Thr76Ala
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4114A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr76Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-48801313-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801312
    reference: chr 17
allele count: 124
allele frequency: 1.198994391800425e-2
allele num: 10342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.235delC
  hgvsp: ENSP00000420933.1:p.His79IlefsTer4
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1209delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4123delC
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.His79IlefsTer4
num of homozygotes: 2
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: TC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-48801314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801314
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801314
    reference: chr 17
allele count: 3498
allele frequency: 3.342251098796102e-1
allele num: 10466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1208C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.234C>T
  hgvsp: ENST00000505619.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4122C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4122C>T
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.25e1
  variant carriers: 474
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.75e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.25e1
  variant carriers: 267
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.5e0
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu78Leu
num of homozygotes: 604
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-48801317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801317
    reference: chr 17
allele count: 1
allele frequency: 9.439305267132339e-5
allele num: 10594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.237T>C
  hgvsp: ENST00000505619.1:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1211T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4125T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His79His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-48801318-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801318
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801318
    reference: chr 17
allele count: 1
allele frequency: 9.437523593808984e-5
allele num: 10596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.238A>G
  hgvsp: ENSP00000420933.1:p.Ser80Gly
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1212A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4126A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser80Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-48801323-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801323
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801323
    reference: chr 17
allele count: 1
allele frequency: 9.425070688030161e-5
allele num: 10610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.243A>G
  hgvsp: ENST00000505619.1:c.243A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1217A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4131A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys81Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-48801371-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48801371
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48801371
    reference: chr 17
allele count: 1
allele frequency: 9.455370650529501e-5
allele num: 10576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.235+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.30+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-130+1265T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.246+45T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-63+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.99+4179T>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-48814276-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814276
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814276
    reference: chr 17
allele count: 1
allele frequency: 1.252473635429974e-5
allele num: 79842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.31-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.100-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-129-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.100-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.100-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.100-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3391T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-174T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.100-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.100-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.236-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3391T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.247-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.100-45T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.100-45T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16566
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-48814278-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814278
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814278
    reference: chr 17
allele count: 1
allele frequency: 1.256944619020086e-5
allele num: 79558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.100-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.100-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3389A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-172A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.100-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.247-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.236-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.100-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.100-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.100-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3389A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.100-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.31-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.100-43A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-129-43A>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

17-48814283-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814283
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814283
    reference: chr 17
allele count: 1
allele frequency: 1.250187528129219e-5
allele num: 79988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.100-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3384C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.100-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.100-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.236-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.100-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3384C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.100-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.100-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-129-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.247-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-167C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.100-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.100-38C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.31-38C>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-48814289-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814289
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814289
    reference: chr 17
allele count: 5
allele frequency: 6.125499228187098e-5
allele num: 81626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.247-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3378A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.100-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-129-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.236-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3378A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-161A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.100-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.100-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.100-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.100-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.100-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.100-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.100-32A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.31-32A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11186
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

17-48814295-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814295
    reference: chr 17
allele count: 64
allele frequency: 7.691568118450149e-4
allele num: 83208
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.100-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3372T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-155T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.100-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3372T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.236-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.100-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.100-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.247-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-129-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.100-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.100-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.31-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.100-26T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.100-26T>A
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

17-48814300-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814300
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814300
    reference: chr 17
allele count: 3
allele frequency: 3.499848339905271e-5
allele num: 85718
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.100-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.236-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.100-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.100-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3367A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.100-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-150A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3367A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.100-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.100-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.100-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.31-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.100-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-129-21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.247-21A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16662
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17819
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-48814306-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814306
    reference: chr 17
allele count: 1
allele frequency: 1.116345531268838e-5
allele num: 89578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.100-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.100-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.100-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.247-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.100-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.31-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.100-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.236-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3361G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.100-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.100-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-144G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.100-15G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3361G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-129-15G>T
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-48814313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814313
    reference: chr 17
allele count: 2
allele frequency: 2.101811761738619e-5
allele num: 95156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.247-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-137T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.31-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.236-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-129-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3354T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3354T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.100-8T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-48814329-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814329
    reference: chr 17
allele count: 3
allele frequency: 2.814417321800477e-5
allele num: 106594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-121A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3338A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.108A>G
  hgvsp: ENST00000504563.2:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.108A>G
  hgvsp: ENST00000505658.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.255A>G
  hgvsp: ENST00000505619.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.108A>G
  hgvsp: ENST00000393227.2:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.108A>G
  hgvsp: ENST00000509335.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.108A>G
  hgvsp: ENST00000506686.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-121A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.108A>G
  hgvsp: ENST00000240304.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.108A>G
  hgvsp: ENST00000508045.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.244A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.39A>G
  hgvsp: ENST00000507200.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.108A>G
  hgvsp: ENST00000311571.3:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3338A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys36Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-48814334-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814334
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814334
    reference: chr 17
allele count: 1
allele frequency: 9.186110600771634e-6
allele num: 108860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-116A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.113A>G
  hgvsp: ENSP00000425251.1:p.Tyr38Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.113A>G
  hgvsp: ENSP00000424767.2:p.Tyr38Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.249A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.113A>G
  hgvsp: ENSP00000425092.1:p.Tyr38Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.113A>G
  hgvsp: ENSP00000311535.3:p.Tyr38Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.113A>G
  hgvsp: ENSP00000426488.1:p.Tyr38Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.260A>G
  hgvsp: ENSP00000420933.1:p.Tyr87Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.113A>G
  hgvsp: ENSP00000376919.2:p.Tyr38Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.113A>G
  hgvsp: ENSP00000424788.1:p.Tyr38Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-116A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.44A>G
  hgvsp: ENSP00000423556.1:p.Tyr15Cys
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.113A>G
  hgvsp: ENSP00000240304.1:p.Tyr38Cys
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr38Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-48814335-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814335
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814335
    reference: chr 17
allele count: 1
allele frequency: 9.156335268372187e-6
allele num: 109214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.114T>C
  hgvsp: ENST00000506686.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.114T>C
  hgvsp: ENST00000504563.2:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.114T>C
  hgvsp: ENST00000508045.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.114T>C
  hgvsp: ENST00000509335.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.250T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.114T>C
  hgvsp: ENST00000393227.2:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.114T>C
  hgvsp: ENST00000311571.3:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-115T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.45T>C
  hgvsp: ENST00000507200.1:c.45T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.261T>C
  hgvsp: ENST00000505619.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.114T>C
  hgvsp: ENST00000240304.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.114T>C
  hgvsp: ENST00000505658.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-115T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr38Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-48814353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814353
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814353
    reference: chr 17
allele count: 36
allele frequency: 3.178639542275906e-4
allele num: 113256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.132T>C
  hgvsp: ENST00000504563.2:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.132T>C
  hgvsp: ENST00000505658.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.132T>C
  hgvsp: ENST00000508045.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3314T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.279T>C
  hgvsp: ENST00000505619.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.132T>C
  hgvsp: ENST00000311571.3:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.132T>C
  hgvsp: ENST00000509335.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.132T>C
  hgvsp: ENST00000393227.2:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3314T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.132T>C
  hgvsp: ENST00000506686.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.132T>C
  hgvsp: ENST00000240304.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.63T>C
  hgvsp: ENST00000507200.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.268T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-97T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-97T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Pro44Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-48814359-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814359
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814359
    reference: chr 17
allele count: 3
allele frequency: 2.641077559644335e-5
allele num: 113590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.138A>G
  hgvsp: ENST00000240304.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.285A>G
  hgvsp: ENST00000505619.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.138A>G
  hgvsp: ENST00000508045.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.138A>G
  hgvsp: ENST00000504563.2:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-91A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.138A>G
  hgvsp: ENST00000506686.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.138A>G
  hgvsp: ENST00000393227.2:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-91A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.138A>G
  hgvsp: ENST00000505658.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.138A>G
  hgvsp: ENST00000311571.3:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3308A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.138A>G
  hgvsp: ENST00000509335.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.274A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.69A>G
  hgvsp: ENST00000507200.1:c.69A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3308A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu46Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-48814384-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814384
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814384
    reference: chr 17
allele count: 1
allele frequency: 8.972150445018663e-6
allele num: 111456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-66C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-66C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.163C>G
  hgvsp: ENSP00000425251.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3283C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.163C>G
  hgvsp: ENSP00000425092.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.163C>G
  hgvsp: ENSP00000240304.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3283C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.163C>G
  hgvsp: ENSP00000424788.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.163C>G
  hgvsp: ENSP00000424767.2:p.Leu55Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.94C>G
  hgvsp: ENSP00000423556.1:p.Leu32Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.310C>G
  hgvsp: ENSP00000420933.1:p.Leu104Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.163C>G
  hgvsp: ENSP00000376919.2:p.Leu55Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.163C>G
  hgvsp: ENSP00000311535.3:p.Leu55Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.299C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.163C>G
  hgvsp: ENSP00000426488.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu55Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-48814403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814403
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814403
    reference: chr 17
allele count: 3
allele frequency: 2.816478275564234e-5
allele num: 106516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3264G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3264G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+16G>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+16G>A
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21389
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-48814405-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814405
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814405
    reference: chr 17
allele count: 2
allele frequency: 1.889466225791214e-5
allele num: 105850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3262G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+18G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3262G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+18G>T
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-48814408-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814408
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814408
    reference: chr 17
allele count: 1
allele frequency: 9.523628121369116e-6
allele num: 105002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3259A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3259A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+21A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+21A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-48814413-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814413
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814413
    reference: chr 17
allele count: 1
allele frequency: 9.675858732462507e-6
allele num: 103350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3254T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3254T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+26T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+26T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-48814418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814418
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814418
    reference: chr 17
allele count: 4
allele frequency: 3.911138923654568e-5
allele num: 102272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3249A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3249A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+31A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+31A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-48814421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814421
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814421
    reference: chr 17
allele count: 1
allele frequency: 9.949060808659663e-6
allele num: 100512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3246T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3246T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+34T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+34T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-48814422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814422
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 100552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3245T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3245T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+35T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+35T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

17-48814423-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814423
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814423
    reference: chr 17
allele count: 2
allele frequency: 1.995768969784058e-5
allele num: 100212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3244A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3244A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+36A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+36A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19192
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-48814424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814424
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814424
    reference: chr 17
allele count: 1
allele frequency: 9.984823068935218e-6
allele num: 100152
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3243T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3243T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+37T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+37T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-48814426-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814426
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814426
    reference: chr 17
allele count: 1
allele frequency: 1.009896990506968e-5
allele num: 99020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.166+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.166+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.166+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.166+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+39A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.166+39A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-48814609-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814609
    reference: chr 17
allele count: 6
allele frequency: 4.817729243616509e-4
allele num: 12454
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+222C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.167-39C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.167-39C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+222C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+222C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+222C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+222C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+222C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+222C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3058C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.167-39C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3058C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+222C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.167-39C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.167-39C>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-48814628-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814628
    reference: chr 17
allele count: 1
allele frequency: 8.017960230917254e-5
allele num: 12472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.167-20A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.167-20A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.167-20A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3039A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3039A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+241A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.167-20A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.167-20A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-48814638-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814638
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814638
    reference: chr 17
allele count: 2
allele frequency: 1.551590380139643e-4
allele num: 12890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.167-10T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+251T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3029T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.167-10T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3029T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+251T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.167-10T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+251T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+251T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+251T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.167-10T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+251T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+251T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+251T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.167-10T>A
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-48814652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814652
    reference: chr 17
allele count: 1
allele frequency: 7.63708568810142e-5
allele num: 13094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.171A>G
  hgvsp: ENST00000506686.1:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.171A>G
  hgvsp: ENST00000311571.3:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.171A>G
  hgvsp: ENST00000504563.2:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3015A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+265A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.171A>G
  hgvsp: ENST00000509335.1:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3015A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.171A>G
  hgvsp: ENST00000508045.1:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+265A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+265A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+265A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+265A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+265A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+265A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+265A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val57Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-48814663-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814663
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814663
    reference: chr 17
allele count: 1
allele frequency: 7.54261577915221e-5
allele num: 13258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+276G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.182G>T
  hgvsp: ENSP00000424767.2:p.Gly61Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+276G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.182G>T
  hgvsp: ENSP00000425251.1:p.Gly61Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+276G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+276G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.182G>T
  hgvsp: ENSP00000424788.1:p.Gly61Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.182G>T
  hgvsp: ENSP00000426488.1:p.Gly61Val
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+276G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+276G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+276G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3004G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3004G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+276G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.182G>T
  hgvsp: ENSP00000311535.3:p.Gly61Val
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly61Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/17-48814664-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814664
    reference: chr 17
allele count: 1
allele frequency: 7.536930961712391e-5
allele num: 13268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.183A>C
  hgvsp: ENST00000504563.2:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+277A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.183A>C
  hgvsp: ENST00000506686.1:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+277A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+277A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3003A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+277A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.183A>C
  hgvsp: ENST00000509335.1:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+277A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.183A>C
  hgvsp: ENST00000311571.3:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+277A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.183A>C
  hgvsp: ENST00000508045.1:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3003A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+277A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+277A>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly61Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

17-48814716-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814716
    reference: chr 17
allele count: 27
allele frequency: 1.991444165806166e-3
allele num: 13558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+329G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.235G>T
  hgvsp: ENSP00000424788.1:p.Glu79Ter
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+329G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+329G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+329G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.235G>T
  hgvsp: ENSP00000425251.1:p.Glu79Ter
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+329G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.235G>T
  hgvsp: ENSP00000311535.3:p.Glu79Ter
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.235G>T
  hgvsp: ENSP00000424767.2:p.Glu79Ter
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.235G>T
  hgvsp: ENSP00000426488.1:p.Glu79Ter
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+329G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+329G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+329G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2951G>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2951G>T
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu79Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

17-48814719-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814719
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814719
    reference: chr 17
allele count: 25
allele frequency: 1.84747265740467e-3
allele num: 13532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2948T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.238T>C
  hgvsp: ENSP00000425251.1:p.Ter80GlnextTer20
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.238T>C
  hgvsp: ENSP00000426488.1:p.Ter80GlnextTer20
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.238T>C
  hgvsp: ENSP00000424767.2:p.Ter80GlnextTer20
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2948T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.238T>C
  hgvsp: ENSP00000424788.1:p.Ter80GlnextTer20
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.238T>C
  hgvsp: ENSP00000311535.3:p.Ter80GlnextTer?
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+332T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+332T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ter80GlnextTer20
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

17-48814720-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814720
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814720
    reference: chr 17
allele count: 2
allele frequency: 1.476668635558181e-4
allele num: 13544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.239A>G
  hgvsp: ENSP00000424767.2:p.Ter80TrpextTer20
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.239A>G
  hgvsp: ENSP00000425251.1:p.Ter80TrpextTer20
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2947A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.239A>G
  hgvsp: ENSP00000426488.1:p.Ter80TrpextTer20
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.239A>G
  hgvsp: ENSP00000424788.1:p.Ter80TrpextTer20
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000311535
  ensembl transcript: ENST00000311571
  gene symbol: LUC7L3
  hgvsc: ENST00000311571.3:c.239A>G
  hgvsp: ENSP00000311535.3:p.Ter80TrpextTer?
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2947A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+333A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+333A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter80TrpextTer20
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-48814729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814729
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814729
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 13494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2938C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+342C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+342C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+342C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2938C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+342C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+342C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+342C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+342C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+342C>T
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-48814770-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48814770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48814769
    reference: chr 17
allele count: 1
allele frequency: 7.526719855486979e-5
allele num: 13286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+387delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2893delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+387delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+387delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+387delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*53delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*53delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2893delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*53delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.*53delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.97+387delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+387delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+387delG
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+387delG
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: AG
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-48815465-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48815465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48815465
    reference: chr 17
allele count: 12
allele frequency: 1.158748551564311e-3
allele num: 10356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*120-33C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.98-37C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+1078C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+1078C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+1078C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2202C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2202C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+1078C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.*120-5C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+1078C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+1078C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*119+625C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*119+625C>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+1078C>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.*120-5C>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

17-48815468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48815468
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48815468
    reference: chr 17
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2199A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+1081A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+1081A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.98-34A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+1081A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+1081A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.*120-2A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*120-30A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*119+628A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+1081A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+1081A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2199A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*119+628A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+1081A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*120-2A>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-48815476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48815476
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48815476
    reference: chr 17
allele count: 1
allele frequency: 9.593246354566385e-5
allele num: 10424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*119+636A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+1089A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2191A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.*126A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+1089A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+1089A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.98-26A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*119+636A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+1089A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+1089A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2191A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+1089A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*120-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+1089A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/17-48815536-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48815536
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48815536
    reference: chr 17
allele count: 4
allele frequency: 3.792907263417409e-4
allele num: 10546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+1149A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2131A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+1149A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2131A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*119+696A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*119+696A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+1149A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*12A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+1149A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+1149A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.*186A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+1149A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+1149A>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*158A>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

17-48815544-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48815544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48815544
    reference: chr 17
allele count: 1
allele frequency: 9.491268033409264e-5
allele num: 10536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*119+704A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+1157A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*166A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*119+704A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.*194A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+1157A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2123A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+1157A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2123A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+1157A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+1157A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+1157A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+1157A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-48815553-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48815553
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48815553
    reference: chr 17
allele count: 1
allele frequency: 9.551098376313276e-5
allele num: 10470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-63+1166C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.166+1166C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426488
  ensembl transcript: ENST00000506686
  gene symbol: LUC7L3
  hgvsc: ENST00000506686.1:c.*203C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*119+713C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*29C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*119+713C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.313+1166C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.302+1166C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.166+1166C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-2114C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*175C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-63+1166C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-2114C>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.166+1166C>A
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-48817620-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817620
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817620
    reference: chr 17
allele count: 1
allele frequency: 9.399556340940707e-6
allele num: 106388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-47T>A
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-47T>A
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-48817625-AATAATCACAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817625
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817615
    reference: chr 17
allele count: 1
allele frequency: 9.312894633910112e-6
allele num: 107378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: AATAATCACAG
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-48817645-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817645
    reference: chr 17
allele count: 1
allele frequency: 9.046662686135085e-6
allele num: 110538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.18A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-22A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-22A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-48817646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817646
    reference: chr 17
allele count: 1
allele frequency: 9.022502120287998e-6
allele num: 110834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.19C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-21C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-21C>T
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-48817649-T-TTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817649
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817651
    reference: chr 17
allele count: 5
allele frequency: 4.465322306964117e-5
allele num: 111974
alternate allele: TTA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-14_*37-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-14_*120-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-14_167-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-14_100-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-14_167-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.26_27dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-14_-62-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-14_167-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-14_303-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-14_314-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-14_-62-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-14_*183-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-14_-62-13dupAT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-14_*120-13dupAT
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-48817652-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817652
    reference: chr 17
allele count: 2178
allele frequency: 1.924232250768633e-2
allele num: 113188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.25T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-15T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-15T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 2.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 29071
  bin: 2.25e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 3.25e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 205
genotype quality: GenotypeQuality
num of homozygotes: 31
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-48817653-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817653
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817654
    reference: chr 17
allele count: 2
allele frequency: 1.76186616864583e-5
allele num: 113516
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.32dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-8dupT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-8dupT
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48817653-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817653
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817653
    reference: chr 17
allele count: 1
allele frequency: 8.809330843229149e-6
allele num: 113516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.26A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-14A>G
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-14A>G
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29256
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-48817653-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817653
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817652
    reference: chr 17
allele count: 59
allele frequency: 5.197505197505198e-4
allele num: 113516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.32delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-8delT
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-8delT
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9537
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: AT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-48817654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817654
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817654
    reference: chr 17
allele count: 7
allele frequency: 6.152764349125428e-5
allele num: 113770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.27T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-13T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-13T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29616
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

17-48817659-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817659
    reference: chr 17
allele count: 1
allele frequency: 8.610594475442584e-6
allele num: 116136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-8T>C
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.32T>C
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.167-8T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-48817659-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817660
    reference: chr 17
allele count: 3
allele frequency: 2.583178342632775e-5
allele num: 116136
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-3dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.37dupC
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-3dupC
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.167-3dupC
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

17-48817660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48817660
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48817660
    reference: chr 17
allele count: 3
allele frequency: 2.574090916891185e-5
allele num: 116546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000426123
  ensembl transcript: ENST00000510984
  gene symbol: LUC7L3
  hgvsc: ENST00000510984.1:c.-62-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425092
  ensembl transcript: ENST00000505658
  gene symbol: LUC7L3
  hgvsc: ENST00000505658.1:c.167-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000376919
  ensembl transcript: ENST00000393227
  gene symbol: LUC7L3
  hgvsc: ENST00000393227.2:c.167-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000423556
  ensembl transcript: ENST00000507200
  gene symbol: LUC7L3
  hgvsc: ENST00000507200.1:c.*37-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000507503
  gene symbol: LUC7L3
  hgvsc: ENST00000507503.1:n.33C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl transcript: ENST00000508218
  gene symbol: LUC7L3
  hgvsc: ENST00000508218.1:n.303-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000420933
  ensembl transcript: ENST00000505619
  gene symbol: LUC7L3
  hgvsc: ENST00000505619.1:c.314-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000421213
  ensembl transcript: ENST00000508482
  gene symbol: LUC7L3
  hgvsc: ENST00000508482.1:c.100-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000444253
  ensembl transcript: ENST00000544170
  gene symbol: LUC7L3
  hgvsc: ENST00000544170.1:c.-62-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000240304
  ensembl transcript: ENST00000240304
  gene symbol: LUC7L3
  hgvsc: ENST00000240304.1:c.167-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000425251
  ensembl transcript: ENST00000509335
  gene symbol: LUC7L3
  hgvsc: ENST00000509335.1:c.*120-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000476198
  ensembl transcript: ENST00000513025
  gene symbol: LUC7L3
  hgvsc: ENST00000513025.2:c.-62-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424788
  ensembl transcript: ENST00000508045
  gene symbol: LUC7L3
  hgvsc: ENST00000508045.1:c.*183-7C>T
  variant of: http://identifiers.org/hgnc/24309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108848
  ensembl protein: ENSP00000424767
  ensembl transcript: ENST00000504563
  gene symbol: LUC7L3
  hgvsc: ENST00000504563.2:c.*120-7C>T
  variant of: http://identifiers.org/hgnc/24309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
hgvs: c.167-7C>T
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 4
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2698
bin: 2.25e1
variant carriers: 21

GenotypeDepth
all individuals: 53
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 268
bin: 1.75e1
variant carriers: 10

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

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

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

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 70

GenotypeQuality
all individuals: 162
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 9.433962264150943e-3
allele num: 106
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

South Asian
type: Population
allele count: 64
allele frequency: 1.008191556395715e-2
allele num: 6348
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 3.048780487804878e-3
allele num: 2296
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.299e0

QD
type: SiteQuality
SIO_000300: 1.333e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.67e-2

DP
type: SiteQuality
SIO_000300: 1.13883e5

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

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

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 52
bin: 3.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2775
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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QD
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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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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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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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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Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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East Asian
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African
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European (Finnish)
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QD
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MQ
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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European (Finnish)
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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FS
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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South Asian
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African
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East Asian
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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QD
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African
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East Asian
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European (Non-Finnish)
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East Asian
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African
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East Asian
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DP
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MQ
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DP
type: SiteQuality
SIO_000300: 1.251882e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

QD
type: SiteQuality
SIO_000300: 2.167e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 674
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.316321374431531e-4
allele num: 7916
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 5.79e-1

QD
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SIO_000300: 1.548e1

BaseQRankSum
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SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
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SIO_000300: 1.288543e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 13

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

Latino
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allele count: 2
allele frequency: 2.955082742316785e-4
allele num: 6768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.940267431638365e-5
allele num: 43226
num of homozygotes: 0

African
type: Population
allele count: 59
allele frequency: 7.320099255583127e-3
allele num: 8060
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12822
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 1.326764e6

VQSLOD
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SIO_000300: 5.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.85e-1

QD
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SIO_000300: 1.361e1

ReadPosRankSum
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SIO_000300: 8.799999999999999e-2

BaseQRankSum
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SIO_000300: -1.507e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 44728
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7126
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.721435316336166e-4
allele num: 6354
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12992
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.370651e6

VQSLOD
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SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

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

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

African
type: Population
allele count: 1
allele frequency: 1.183712121212121e-4
allele num: 8448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13274
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47022
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.001e0

BaseQRankSum
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QD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 2
allele frequency: 2.349624060150376e-4
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

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

MQRankSum
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VQSLOD
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SIO_000300: 3.71e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

DP
type: SiteQuality
SIO_000300: 1.49367e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 38757
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.223033949290932e-4
allele num: 9308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57698
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.620041e6

FS
type: SiteQuality
SIO_000300: 6.868e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
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SIO_000300: 1.363e1

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.809206046574969e-5
allele num: 14686
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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

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

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

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

Latino
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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
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.060670343657191e-4
allele num: 9428
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.19e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
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SIO_000300: -2.557e0

QD
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SIO_000300: 1.345e1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.215e0

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ClippingRankSum
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SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 1.645994e6

GenotypeDepth
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variant carriers: 4

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 35
allele frequency: 5.643522848205359e-4
allele num: 62018
num of homozygotes: 0

South Asian
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allele num: 15182
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 62196
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.968245637055505e-4
allele num: 15242
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

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

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

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

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

Other
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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: 5.202372281760483e-5
allele num: 57666
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.269e0

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -7.0e-4

BaseQRankSum
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SIO_000300: -2.27e0

VQSLOD
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DP
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

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

East Asian
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allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.150537634408602e-4
allele num: 9300
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: -1.701e0

FS
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VQSLOD
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DP
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QD
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MQRankSum
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SIO_000300: 3.8e-2

ClippingRankSum
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SIO_000300: 4.08e-1

InbreedingCoeff
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SIO_000300: -1.2e-3

ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 56768
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 1.884e0

QD
type: SiteQuality
SIO_000300: 9.41e0

BaseQRankSum
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SIO_000300: 3.17e-1

ReadPosRankSum
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SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.455407e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.795009872554299e-5
allele num: 55710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
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ReadPosRankSum
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SIO_000300: 6.820000000000001e-1

VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 1.403795e6

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.272462819533835e-5
allele num: 55002
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South Asian
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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InbreedingCoeff
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MQRankSum
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QD
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Other
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African
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 53708
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Other
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African
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 756
num of homozygotes: 0

African
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European (Finnish)
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

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

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 52974
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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QD
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DP
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Other
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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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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Latino
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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VQSLOD
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MQ
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-1

InbreedingCoeff
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SIO_000300: -3.81e-2

QD
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ClippingRankSum
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SIO_000300: -1.61e-1

DP
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SIO_000300: 1.68461e5

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.065603923973023e-4
allele num: 3262
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -1.222e0

ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: 1.47e0

DP
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SIO_000300: 1.72202e5

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1584
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.329433661260303e-4
allele num: 7522
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3390
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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.093e-1

BaseQRankSum
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SIO_000300: -2.693e0

DP
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

MQRankSum
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SIO_000300: -5.28e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 3400
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.329787234042553e-4
allele num: 7520
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 174
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 100
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.62e-1

VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
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SIO_000300: 1.73426e5

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

African
type: Population
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allele frequency: 8.19672131147541e-3
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Other
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allele count: 1
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allele num: 176
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East Asian
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allele count: 0
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South Asian
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allele frequency: 6.648936170212766e-4
allele num: 7520
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
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allele count: 18
allele frequency: 4.936917169500823e-3
allele num: 3646
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele count: 17
allele frequency: 4.685777287761852e-3
allele num: 3628
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Latino
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Other
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South Asian
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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SIO_000300: -2.95e-2

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.659574468085106e-4
allele num: 7520
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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SIO_000300: 3.81e-1

DP
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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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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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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MQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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South Asian
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Latino
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ClippingRankSum
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FS
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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Other
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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GenotypeDepth
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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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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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DP
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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Latino
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Other
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African
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VQSLOD
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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European (Finnish)
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Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 57534
num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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Latino
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African
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East Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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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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FS
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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QD
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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African
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Latino
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 1.698711e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 3.583e0

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

GenotypeDepth
all individuals: 483
bin: 6.25e1
variant carriers: 37

GenotypeDepth
all individuals: 677
bin: 5.25e1
variant carriers: 53

GenotypeDepth
all individuals: 2224
bin: 3.75e1
variant carriers: 215

GenotypeDepth
all individuals: 945
bin: 4.75e1
variant carriers: 90

GenotypeDepth
all individuals: 1368
bin: 4.25e1
variant carriers: 159

GenotypeDepth
all individuals: 213
bin: 8.25e1
variant carriers: 22

GenotypeDepth
all individuals: 162
bin: 8.75e1
variant carriers: 22

GenotypeQuality
all individuals: 1823
bin: 8.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1532
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 404
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9234
bin: 9.75e1
variant carriers: 2105

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3984
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5900
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2624
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1212
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2209
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1029
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 824
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 830
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27905
bin: 6.25e1
variant carriers: 3

Latino
type: Population
allele count: 47
allele frequency: 4.202432045779685e-3
allele num: 11184
num of homozygotes: 0

Other
type: Population
allele count: 14
allele frequency: 1.605504587155963e-2
allele num: 872
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 209
allele frequency: 3.234292788610337e-2
allele num: 6462
num of homozygotes: 3

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

South Asian
type: Population
allele count: 54
allele frequency: 3.474456311928966e-3
allele num: 15542
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1801
allele frequency: 2.91527728317524e-2
allele num: 61778
num of homozygotes: 26

African
type: Population
allele count: 53
allele frequency: 5.697699419479682e-3
allele num: 9302
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

FS
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 1.745403e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

QD
type: SiteQuality
SIO_000300: 1.541e1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 954
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 201
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 484
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
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variant carriers: 0

GenotypeDepth
all individuals: 4893
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7874
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2335
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6164
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28493
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.284356537374775e-4
allele num: 15572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 6.015e1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

DP
type: SiteQuality
SIO_000300: 1.752728e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeDepth
all individuals: 4893
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2263
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
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variant carriers: 0

GenotypeDepth
all individuals: 1496
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
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variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28493
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7874
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6164
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.070893124866138e-4
allele num: 9338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61982
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 6.015e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 1.752728e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeDepth
all individuals: 3685
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 879
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29256
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 4893
bin: 3.25e1
variant carriers: 11

GenotypeDepth
all individuals: 1496
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 378
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7874
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 1417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
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variant carriers: 0

GenotypeQuality
all individuals: 28493
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6164
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3777
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.93814801573114e-5
allele num: 11188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

East Asian
type: Population
allele count: 58
allele frequency: 7.16580182851495e-3
allele num: 8094
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQ
type: SiteQuality
SIO_000300: 6.015e1

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

DP
type: SiteQuality
SIO_000300: 1.752728e6

GenotypeDepth
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9620
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
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variant carriers: 0

GenotypeDepth
all individuals: 4907
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1948
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variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7822
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
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GenotypeQuality
all individuals: 1143
bin: 9.25e1
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GenotypeQuality
all individuals: 6205
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variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28921
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.824547296645331e-5
allele num: 62182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.06315118009781e-4
allele num: 9406
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.74251497005988e-4
allele num: 8016
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 1.757575e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 3.974e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 31492
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2294
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 549
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variant carriers: 0

GenotypeDepth
all individuals: 5079
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 955
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1371
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
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GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
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GenotypeQuality
all individuals: 6494
bin: 6.75e1
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GenotypeQuality
all individuals: 1156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
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GenotypeQuality
all individuals: 443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57257430413587e-5
allele num: 63590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

DP
type: SiteQuality
SIO_000300: 1.792328e6

FS
type: SiteQuality
SIO_000300: 3.989e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeDepth
all individuals: 2515
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 955
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1371
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31492
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2294
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 377
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5079
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 485
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1496
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7860
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 31138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.110742430526753e-4
allele num: 9644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15864
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

FS
type: SiteQuality
SIO_000300: 3.989e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.205e1

DP
type: SiteQuality
SIO_000300: 1.792328e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 5129
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 31712
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 201
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1502
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10258
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1381
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 485
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1496
bin: 9.75e1
variant carriers: 1