http://identifiers.org/exac.variant/17-37295996-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37295996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37295996
    reference: chr 17
allele count: 2
allele frequency: 1.653986106516705e-5
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-54T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.166T>G
  hgvsp: ENSP00000323927.4:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.166T>G
  hgvsp: ENSP00000462089.1:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12803T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-54T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.200T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.248T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-54T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.217T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.399T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-54T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.166T>G
  hgvsp: ENSP00000377851.2:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-54T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.373T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.194T>G
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser56Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

17-37296016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296016
    reference: chr 17
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.197G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-74G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.379G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12783G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.174G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-74G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-74G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-74G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.146G>A
  hgvsp: ENSP00000323927.4:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.146G>A
  hgvsp: ENSP00000462089.1:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.146G>A
  hgvsp: ENSP00000377851.2:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.228G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.353G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.180G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-74G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg49Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

17-37296017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296017
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.145C>T
  hgvsp: ENSP00000462089.1:p.Arg49Ter
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-75C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.173C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.227C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-75C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-75C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.145C>T
  hgvsp: ENSP00000377851.2:p.Arg49Ter
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.196C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.179C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-75C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-75C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.352C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.378C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.145C>T
  hgvsp: ENSP00000323927.4:p.Arg49Ter
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12782C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg49Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-37296017-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296017
    reference: chr 17
allele count: 3
allele frequency: 2.484266313348791e-5
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.196C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.145C>G
  hgvsp: ENSP00000462089.1:p.Arg49Gly
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.145C>G
  hgvsp: ENSP00000377851.2:p.Arg49Gly
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.179C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12782C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.173C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.352C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.227C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.145C>G
  hgvsp: ENSP00000323927.4:p.Arg49Gly
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.378C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg49Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-37296019-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296019
    reference: chr 17
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.350C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-77C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.143C>A
  hgvsp: ENSP00000462089.1:p.Ala48Asp
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-77C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.225C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.194C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.143C>A
  hgvsp: ENSP00000377851.2:p.Ala48Asp
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.171C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.376C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.143C>A
  hgvsp: ENSP00000323927.4:p.Ala48Asp
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.177C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-77C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12780C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-77C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-77C>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala48Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

17-37296020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296020
    reference: chr 17
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.349G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.193G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.142G>A
  hgvsp: ENSP00000377851.2:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.176G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.142G>A
  hgvsp: ENSP00000323927.4:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.375G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.170G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.142G>A
  hgvsp: ENSP00000462089.1:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.224G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12779G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala48Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

17-37296021-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296021
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296021
    reference: chr 17
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.192A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.348A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.141A>C
  hgvsp: ENSP00000377851.2:p.Arg47Ser
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-79A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-79A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.169A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.141A>C
  hgvsp: ENSP00000323927.4:p.Arg47Ser
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.374A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-79A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-79A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.141A>C
  hgvsp: ENSP00000462089.1:p.Arg47Ser
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.175A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12778A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.223A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-79A>C
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg47Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-37296025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296025
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296025
    reference: chr 17
allele count: 739
allele frequency: 6.121907980847292e-3
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-83G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.165G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.137G>A
  hgvsp: ENSP00000462089.1:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12774G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.188G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-83G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.219G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-83G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-83G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.137G>A
  hgvsp: ENSP00000323927.4:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-83G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.137G>A
  hgvsp: ENSP00000377851.2:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.370G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.344G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.171G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 29788
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
hgvs: p.Arg46Gln
num of homozygotes: 8
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-37296026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296026
    reference: chr 17
allele count: 119
allele frequency: 9.860135224711653e-4
allele num: 120688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.343C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.136C>T
  hgvsp: ENSP00000462089.1:p.Arg46Trp
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.170C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.187C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.136C>T
  hgvsp: ENSP00000377851.2:p.Arg46Trp
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.136C>T
  hgvsp: ENSP00000323927.4:p.Arg46Trp
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.218C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12773C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.164C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.369C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21181
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg46Trp
num of homozygotes: 1
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-37296037-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296037
    reference: chr 17
allele count: 183
allele frequency: 1.51973159712995e-3
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-95G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-95G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-95G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-95G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.159G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.153G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12762G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.176G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.125G>T
  hgvsp: ENSP00000462089.1:p.Arg42Leu
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.358G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.125G>T
  hgvsp: ENSP00000377851.2:p.Arg42Leu
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.332G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.125G>T
  hgvsp: ENSP00000323927.4:p.Arg42Leu
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-95G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.207G>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
hgvs: p.Arg42Leu
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-37296037-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296037
    reference: chr 17
allele count: 3
allele frequency: 2.491363273983524e-5
allele num: 120416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.125G>C
  hgvsp: ENSP00000377851.2:p.Arg42Pro
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12762G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.125G>C
  hgvsp: ENSP00000462089.1:p.Arg42Pro
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.358G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.153G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.207G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.125G>C
  hgvsp: ENSP00000323927.4:p.Arg42Pro
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.159G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.332G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.176G>C
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg42Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

17-37296037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296037
    reference: chr 17
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.125G>A
  hgvsp: ENSP00000377851.2:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.125G>A
  hgvsp: ENSP00000323927.4:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-95G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-95G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.153G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-95G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.125G>A
  hgvsp: ENSP00000462089.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-95G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-95G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.332G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.159G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.176G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.358G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.207G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12762G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg42Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-37296038-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296038
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296038
    reference: chr 17
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-96C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.357C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-96C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.124C>A
  hgvsp: ENST00000578390.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.206C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-96C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.124C>A
  hgvsp: ENST00000315392.4:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-96C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.175C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-96C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.331C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.124C>A
  hgvsp: ENST00000394316.2:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12761C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.158C>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.152C>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg42Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-37296041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296041
    reference: chr 17
allele count: 4
allele frequency: 3.325241911349051e-5
allele num: 120292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.172G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12758G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.328G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.121G>A
  hgvsp: ENSP00000323927.4:p.Val41Met
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.121G>A
  hgvsp: ENSP00000377851.2:p.Val41Met
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.155G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.121G>A
  hgvsp: ENSP00000462089.1:p.Val41Met
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.203G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.149G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.354G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21107
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val41Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

17-37296042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296042
    reference: chr 17
allele count: 2
allele frequency: 1.663810458712543e-5
allele num: 120206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.353C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.120C>T
  hgvsp: ENST00000394316.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.171C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-100C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-100C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-100C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-100C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.148C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.120C>T
  hgvsp: ENST00000315392.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.202C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.120C>T
  hgvsp: ENST00000578390.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.154C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-100C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.327C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12757C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr40Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-37296062-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296062
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296062
    reference: chr 17
allele count: 1
allele frequency: 8.410853365182432e-6
allele num: 118894
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.100G>C
  hgvsp: ENSP00000323927.4:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.100G>C
  hgvsp: ENSP00000377851.2:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.151G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-120G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-120G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.134G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-120G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-120G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.307G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.333G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.100G>C
  hgvsp: ENSP00000462089.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12737G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-120G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.128G>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.182G>C
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly34Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

17-37296071-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296071
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296071
    reference: chr 17
allele count: 3
allele frequency: 2.545565624681804e-5
allele num: 117852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.298C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.91C>G
  hgvsp: ENSP00000377851.2:p.Pro31Ala
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-129C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.91C>G
  hgvsp: ENSP00000323927.4:p.Pro31Ala
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-129C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.91C>G
  hgvsp: ENSP00000462089.1:p.Pro31Ala
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.119C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.173C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12728C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-129C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.324C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-129C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-129C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.142C>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.125C>G
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro31Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-37296080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296080
    reference: chr 17
allele count: 18
allele frequency: 1.538645649906826e-4
allele num: 116986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.164G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.116G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.315G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.82G>A
  hgvsp: ENSP00000462089.1:p.Asp28Asn
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.82G>A
  hgvsp: ENSP00000377851.2:p.Asp28Asn
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.82G>A
  hgvsp: ENSP00000323927.4:p.Asp28Asn
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.289G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.110G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12719G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.133G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp28Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum

17-37296081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296081
    reference: chr 17
allele count: 2
allele frequency: 1.711156741957563e-5
allele num: 116880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-139C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-139C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.132C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.314C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-139C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.81C>T
  hgvsp: ENST00000315392.4:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.109C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-139C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.81C>T
  hgvsp: ENST00000578390.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.288C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.81C>T
  hgvsp: ENST00000394316.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.163C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12718C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.115C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-139C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His27His
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-37296086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296086
    reference: chr 17
allele count: 1
allele frequency: 8.594757198109153e-6
allele num: 116350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12713G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-1G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-1G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.77-1G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

17-37296089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296089
    reference: chr 17
allele count: 1
allele frequency: 8.62083829031535e-6
allele num: 115998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12710C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-4C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-4C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.77-4C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-37296089-G-GGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296091
    reference: chr 17
allele count: 1
allele frequency: 8.62083829031535e-6
allele num: 115998
alternate allele: GGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-6_128-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-6_111-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-6_-143-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-6_284-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-6_-143-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-6_-143-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-6_-143-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-6_-143-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-6_77-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-6_159-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-6_77-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12708_135+12709dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-6_105-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-6_77-5dupTC
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-6_310-5dupTC
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.77-6_77-5dupTC
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-37296095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296095
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296095
    reference: chr 17
allele count: 2
allele frequency: 1.730912363907015e-5
allele num: 115546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12704C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-10C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-10C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19142
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/17-37296110-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296110
    reference: chr 17
allele count: 2
allele frequency: 1.758953071132062e-5
allele num: 113704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-25T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12689T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-25T>G
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-37296114-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296114
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296114
    reference: chr 17
allele count: 5
allele frequency: 4.421335597057159e-5
allele num: 113088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-29G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12685G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-29G>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21099
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-37296122-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296122
    reference: chr 17
allele count: 1
allele frequency: 8.942464185430938e-6
allele num: 111826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-37G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12677G>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-37G>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-37296123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296123
    reference: chr 17
allele count: 1
allele frequency: 8.968609865470853e-6
allele num: 111500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12676G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-38G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-38G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

17-37296124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296124
    reference: chr 17
allele count: 12
allele frequency: 1.077857219846944e-4
allele num: 111332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12675C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-39C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-39C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10096
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17148
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-37296130-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37296130
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37296130
    reference: chr 17
allele count: 2
allele frequency: 1.807337791433219e-5
allele num: 110660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+12669T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.77-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.310-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.77-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-143-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.105-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-143-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-143-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.111-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.159-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.128-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-143-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-143-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.77-45T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.284-45T>G
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-37307576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37307576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37307576
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+1223G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.309+1601G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.104+1601G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.127+1601G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.76+39G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-144+1146G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.76+39G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.110+1601G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-144+1601G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.76+39G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-144+2944G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-144+1223G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.127+1601G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-144+1601G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.158+39G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

17-37307582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37307582
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37307582
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.127+1595G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.76+33G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-144+2938G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-144+1140G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-144+1595G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.127+1595G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.309+1595G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-144+1595G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.158+33G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-144+1217G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.110+1595G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.76+33G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+1217G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.76+33G>A
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.104+1595G>A
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-37307609-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37307609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37307609
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-144+1113A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.309+1568A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+1190A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.127+1568A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-144+1568A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000323927
  ensembl transcript: ENST00000315392
  gene symbol: PLXDC1
  hgvsc: ENST00000315392.4:c.76+6A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-144+1190A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462089
  ensembl transcript: ENST00000578390
  gene symbol: PLXDC1
  hgvsc: ENST00000578390.1:c.76+6A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000394318
  gene symbol: PLXDC1
  hgvsc: ENST00000394318.3:n.158+6A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-144+1568A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-144+2911A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.110+1568A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000377851
  ensembl transcript: ENST00000394316
  gene symbol: PLXDC1
  hgvsc: ENST00000394316.2:c.76+6A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.127+1568A>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.104+1568A>C
  variant of: http://identifiers.org/hgnc/20945
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.76+6A>C
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-37308792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37308792
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37308792
    reference: chr 17
allele count: 3
allele frequency: 5.357142857142857e-2
allele num: 56
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.135+7C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-144+7C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.309+385C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-144+385C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.104+385C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.127+385C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000416819
  ensembl transcript: ENST00000415163
  gene symbol: PLXDC1
  hgvsc: ENST00000415163.1:c.-214C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.127+385C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-144+1728C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.110+385C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-144+385C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 8.75e1
  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: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
hgvs: c.-144+7C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-37308842-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37308842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37308842
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 60
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-144+335T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-144+1678T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.127+335T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.127+335T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.92T>G
  hgvsp: ENSP00000409687.2:p.Leu31Arg
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000393227
  ensembl transcript: ENST00000441877
  gene symbol: PLXDC1
  hgvsc: ENST00000441877.1:c.-187T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.104+335T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-144+335T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.110+335T>G
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.309+335T>G
  variant of: http://identifiers.org/hgnc/20945
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
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: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  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: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu31Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-37308901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37308901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37308901
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 50
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.309+276C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.127+276C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-144+276C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-144+1619C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.110+276C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.33C>T
  hgvsp: ENST00000444911.2:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-144+276C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.104+276C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.127+276C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  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: 6
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg11Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

17-37308910-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37308910
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37308910
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 62
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.104+267T>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-144+267T>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.309+267T>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-144+267T>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.127+267T>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.110+267T>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-144+1610T>C
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000409687
  ensembl transcript: ENST00000444911
  gene symbol: PLXDC1
  hgvsc: ENST00000444911.2:c.24T>C
  hgvsp: ENST00000444911.2:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.127+267T>C
  variant of: http://identifiers.org/hgnc/20945
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu8Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

17-37308968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37308968
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37308968
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 38
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000461225
  gene symbol: PLXDC1
  hgvsc: ENST00000461225.1:n.309+209C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000580667
  gene symbol: PLXDC1
  hgvsc: ENST00000580667.1:n.127+209C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000578517
  gene symbol: PLXDC1
  hgvsc: ENST00000578517.1:n.104+209C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000577941
  gene symbol: PLXDC1
  hgvsc: ENST00000577941.1:n.110+209C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl transcript: ENST00000583285
  gene symbol: PLXDC1
  hgvsc: ENST00000583285.1:n.127+209C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000462241
  ensembl transcript: ENST00000578808
  gene symbol: PLXDC1
  hgvsc: ENST00000578808.1:c.-144+209C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000464029
  ensembl transcript: ENST00000579190
  gene symbol: PLXDC1
  hgvsc: ENST00000579190.1:c.-144+1552C>T
  variant of: http://identifiers.org/hgnc/20945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161381
  ensembl protein: ENSP00000441881
  ensembl transcript: ENST00000539608
  gene symbol: PLXDC1
  hgvsc: ENST00000539608.1:c.-144+209C>T
  variant of: http://identifiers.org/hgnc/20945
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  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
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 7.5e0
  variant carriers: 3
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-37313105-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37313105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37313105
    reference: chr 17
allele count: 1
allele frequency: 5.02209722780233e-5
allele num: 19912
alternate allele: T
canonical: false
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 305
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 410
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 4.655493482309125e-4
  allele num: 2148
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 34
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-37313109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37313109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37313109
    reference: chr 17
allele count: 2
allele frequency: 1.004217714400482e-4
allele num: 19916
alternate allele: G
canonical: false
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8470
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 190
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 34
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 408
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-37313117-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37313117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37313117
    reference: chr 17
allele count: 5
allele frequency: 2.510292198011848e-4
allele num: 19918
alternate allele: G
canonical: false
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2189
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 34
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 190
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population: South Asian
  type: Population
  allele count: 5
  allele frequency: 6.348400203148807e-4
  allele num: 7876
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8466
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

17-37313145-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37313145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37313145
    reference: chr 17
allele count: 1
allele frequency: 5.012028869286287e-5
allele num: 19952
alternate allele: G
canonical: false
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 212
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genotype depth: GenotypeDepth
  all individuals: 88
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genotype depth: GenotypeDepth
  all individuals: 392
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genotype depth: GenotypeDepth
  all individuals: 104
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genotype depth: GenotypeDepth
  all individuals: 1793
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 190
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 34
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.178967224711153e-4
  allele num: 8482
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2146
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

17-37313159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37313159
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37313159
    reference: chr 17
allele count: 1
allele frequency: 5.010522096402445e-5
allele num: 19958
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.528C>T
  hgvsp: ENST00000444555.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.528C>T
  hgvsp: ENST00000269586.7:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala176Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 794
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-37313176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37313176
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37313176
    reference: chr 17
allele count: 239
allele frequency: 1.197514781040184e-2
allele num: 19958
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.511T>C
  hgvsp: ENSP00000387615.1:p.Trp171Arg
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.511T>C
  hgvsp: ENSP00000269586.7:p.Trp171Arg
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 9.75e1
  variant carriers: 228
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
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genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 626
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genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 492
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp171Arg
num of homozygotes: 10
population: East Asian
  type: Population
  allele count: 33
  allele frequency: 4.15617128463476e-2
  allele num: 794
  num of homozygotes: 2
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-37313206-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37313206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37313206
    reference: chr 17
allele count: 1
allele frequency: 5.023106288929074e-5
allele num: 19908
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.492-11C>G
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.492-11C>G
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 32
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-37316787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316787
    reference: chr 17
allele count: 2
allele frequency: 1.572821642025794e-4
allele num: 12716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.491+57C>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.491+57C>T
  variant of: http://identifiers.org/hgnc/31111
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-37316817-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316817
    reference: chr 17
allele count: 11
allele frequency: 6.136338279593886e-4
allele num: 17926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.491+27T>C
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.491+27T>C
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.287T>C
  hgvsp: ENSP00000466347.1:p.Leu96Pro
  variant of: http://identifiers.org/hgnc/31111
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4981
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu96Pro
num of homozygotes: 1
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-37316818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316818
    reference: chr 17
allele count: 739
allele frequency: 4.05865553602812e-2
allele num: 18208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.286C>T
  hgvsp: ENST00000578912.1:c.286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.491+26C>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.491+26C>T
  variant of: http://identifiers.org/hgnc/31111
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 9.75e1
  variant carriers: 705
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 2
hgvs: p.Leu96Leu
num of homozygotes: 20
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

17-37316820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316820
    reference: chr 17
allele count: 1
allele frequency: 5.425935973955508e-5
allele num: 18430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.284C>T
  hgvsp: ENSP00000466347.1:p.Ser95Phe
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.491+24C>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.491+24C>T
  variant of: http://identifiers.org/hgnc/31111
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser95Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

17-37316822-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316822
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316822
    reference: chr 17
allele count: 1
allele frequency: 5.366534292154127e-5
allele num: 18634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.491+22A>G
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.491+22A>G
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.282A>G
  hgvsp: ENST00000578912.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly94Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-37316831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316831
    reference: chr 17
allele count: 1
allele frequency: 5.119803399549457e-5
allele num: 19532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.273C>T
  hgvsp: ENST00000578912.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.491+13C>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.491+13C>T
  variant of: http://identifiers.org/hgnc/31111
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala91Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-37316832-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316832
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316832
    reference: chr 17
allele count: 3
allele frequency: 1.549746874677136e-4
allele num: 19358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.491+12C>G
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.491+12C>G
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.272C>G
  hgvsp: ENSP00000466347.1:p.Ala91Gly
  variant of: http://identifiers.org/hgnc/31111
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala91Gly
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-37316846-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316846
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316846
    reference: chr 17
allele count: 1
allele frequency: 4.896200548374461e-5
allele num: 20424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.489A>T
  hgvsp: ENSP00000269586.7:p.Glu163Asp
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.258A>T
  hgvsp: ENSP00000466347.1:p.Glu86Asp
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.489A>T
  hgvsp: ENSP00000387615.1:p.Glu163Asp
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu163Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-37316849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316849
    reference: chr 17
allele count: 4
allele frequency: 1.951409893648161e-4
allele num: 20498
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.486G>A
  hgvsp: ENST00000444555.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.255G>A
  hgvsp: ENST00000578912.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.486G>A
  hgvsp: ENST00000269586.7:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg162Arg
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-37316859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316859
    reference: chr 17
allele count: 1
allele frequency: 4.837461300309598e-5
allele num: 20672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.245C>T
  hgvsp: ENSP00000466347.1:p.Ala82Val
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.476C>T
  hgvsp: ENSP00000269586.7:p.Ala159Val
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.476C>T
  hgvsp: ENSP00000387615.1:p.Ala159Val
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala159Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

17-37316882-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316882
    reference: chr 17
allele count: 1
allele frequency: 4.770537162484496e-5
allele num: 20962
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.453G>C
  hgvsp: ENST00000444555.1:c.453G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.222G>C
  hgvsp: ENST00000578912.1:c.222G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.453G>C
  hgvsp: ENST00000269586.7:c.453G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser151Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

17-37316883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316883
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316883
    reference: chr 17
allele count: 6
allele frequency: 2.85932138772398e-4
allele num: 20984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.221C>T
  hgvsp: ENSP00000466347.1:p.Ser74Leu
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.452C>T
  hgvsp: ENSP00000387615.1:p.Ser151Leu
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.452C>T
  hgvsp: ENSP00000269586.7:p.Ser151Leu
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser151Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-37316916-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316916
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316916
    reference: chr 17
allele count: 2
allele frequency: 9.43040362127499e-5
allele num: 21208
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.419A>G
  hgvsp: ENSP00000387615.1:p.His140Arg
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.188A>G
  hgvsp: ENSP00000466347.1:p.His63Arg
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.419A>G
  hgvsp: ENSP00000269586.7:p.His140Arg
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His140Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-37316921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316921
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316921
    reference: chr 17
allele count: 1
allele frequency: 4.709871891484552e-5
allele num: 21232
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.414C>T
  hgvsp: ENST00000444555.1:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.183C>T
  hgvsp: ENST00000578912.1:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.414C>T
  hgvsp: ENST00000269586.7:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile138Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-37316923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316923
    reference: chr 17
allele count: 1
allele frequency: 4.709871891484552e-5
allele num: 21232
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.412A>G
  hgvsp: ENSP00000387615.1:p.Ile138Val
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.412A>G
  hgvsp: ENSP00000269586.7:p.Ile138Val
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.181A>G
  hgvsp: ENSP00000466347.1:p.Ile61Val
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile138Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

17-37316931-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316931
    reference: chr 17
allele count: 1
allele frequency: 4.70189956742524e-5
allele num: 21268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.404T>C
  hgvsp: ENSP00000269586.7:p.Met135Thr
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.404T>C
  hgvsp: ENSP00000387615.1:p.Met135Thr
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.173T>C
  hgvsp: ENSP00000466347.1:p.Met58Thr
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met135Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-37316937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316937
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316937
    reference: chr 17
allele count: 2
allele frequency: 9.399379640943698e-5
allele num: 21278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.167T>C
  hgvsp: ENSP00000466347.1:p.Met56Thr
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.398T>C
  hgvsp: ENSP00000269586.7:p.Met133Thr
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.398T>C
  hgvsp: ENSP00000387615.1:p.Met133Thr
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met133Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-37316950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316950
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316950
    reference: chr 17
allele count: 1
allele frequency: 4.6988065031482e-5
allele num: 21282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.385G>A
  hgvsp: ENSP00000269586.7:p.Val129Met
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.385G>A
  hgvsp: ENSP00000387615.1:p.Val129Met
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.154G>A
  hgvsp: ENSP00000466347.1:p.Val52Met
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val129Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-37316984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316984
    reference: chr 17
allele count: 8
allele frequency: 3.7821482602118e-4
allele num: 21152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.351T>C
  hgvsp: ENST00000269586.7:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.120T>C
  hgvsp: ENST00000578912.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.351T>C
  hgvsp: ENST00000444555.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp117Asp
num of homozygotes: 1
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-37316986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316986
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316986
    reference: chr 17
allele count: 2
allele frequency: 9.475080538184574e-5
allele num: 21108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.118G>A
  hgvsp: ENSP00000466347.1:p.Asp40Asn
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.349G>A
  hgvsp: ENSP00000387615.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.349G>A
  hgvsp: ENSP00000269586.7:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp117Asn
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-37316988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316988
    reference: chr 17
allele count: 3208
allele frequency: 1.515351913084554e-1
allele num: 21170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.116A>G
  hgvsp: ENSP00000466347.1:p.Gln39Arg
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.347A>G
  hgvsp: ENSP00000387615.1:p.Gln116Arg
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.347A>G
  hgvsp: ENSP00000269586.7:p.Gln116Arg
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 2.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.5e0
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.5e0
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 5040
  bin: 6.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 12
hgvs: p.Gln116Arg
num of homozygotes: 240
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-37316993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37316993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37316993
    reference: chr 17
allele count: 1
allele frequency: 4.783773440489859e-5
allele num: 20904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.111T>C
  hgvsp: ENST00000578912.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.342T>C
  hgvsp: ENST00000269586.7:c.342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.342T>C
  hgvsp: ENST00000444555.1:c.342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
hgvs: c.342T>C
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-37317008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37317008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37317008
    reference: chr 17
allele count: 4
allele frequency: 1.945525291828794e-4
allele num: 20560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.340-13C>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.340-13C>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.109-13C>T
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5584
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

17-37317023-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37317023
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37317023
    reference: chr 17
allele count: 1
allele frequency: 4.958349861166204e-5
allele num: 20168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.340-28G>C
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.340-28G>C
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.109-28G>C
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 215
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
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: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-37317032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37317032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37317032
    reference: chr 17
allele count: 1
allele frequency: 5.051015254066067e-5
allele num: 19798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.109-37T>C
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.340-37T>C
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.340-37T>C
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4274
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 120
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genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/17-37317488-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37317488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 37317488
    reference: chr 17
allele count: 1
allele frequency: 4.733503739467954e-5
allele num: 21126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000387615
  ensembl transcript: ENST00000444555
  gene symbol: ARL5C
  hgvsc: ENST00000444555.1:c.339+33G>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000269586
  ensembl transcript: ENST00000269586
  gene symbol: ARL5C
  hgvsc: ENST00000269586.7:c.339+33G>T
  variant of: http://identifiers.org/hgnc/31111
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141748
  ensembl protein: ENSP00000466347
  ensembl transcript: ENST00000578912
  gene symbol: ARL5C
  hgvsc: ENST00000578912.1:c.108+33G>T
  variant of: http://identifiers.org/hgnc/31111
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6307
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 1.540824e6

FS
type: SiteQuality
SIO_000300: 1.978e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeDepth
all individuals: 297
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
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variant carriers: 1

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.538377e6

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
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variant carriers: 0

GenotypeDepth
all individuals: 196
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 30186
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variant carriers: 0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 45828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
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variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 7039
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variant carriers: 0

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

GenotypeQuality
all individuals: 465
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.876e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.538525e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 8.752000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.113e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

GenotypeDepth
all individuals: 462
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
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variant carriers: 1

GenotypeDepth
all individuals: 6293
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 1

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 64
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variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 465
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variant carriers: 0

GenotypeQuality
all individuals: 2021
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.480278422273782e-4
allele num: 8620
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

DP
type: SiteQuality
SIO_000300: 1.538525e6

QD
type: SiteQuality
SIO_000300: 1.113e1

FS
type: SiteQuality
SIO_000300: 8.752000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.876e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

GenotypeDepth
all individuals: 21082
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 458
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variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 195
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013863773357444e-5
allele num: 66360
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 4.837e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

DP
type: SiteQuality
SIO_000300: 1.538043e6

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.294e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 65
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variant carriers: 1

GenotypeDepth
all individuals: 102
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1032
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 2020
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variant carriers: 0

GenotypeQuality
all individuals: 45810
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variant carriers: 0

GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 7051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 1961
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variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 5.9e-3

ClippingRankSum
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QD
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BaseQRankSum
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MQ
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DP
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VQSLOD
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SIO_000300: -2.563e0

MQRankSum
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SIO_000300: 1.15e0

ReadPosRankSum
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SIO_000300: -1.196e0

FS
type: SiteQuality
SIO_000300: 1.018e0

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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GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
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SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
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SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 2.055e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
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SIO_000300: 1.537629e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-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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variant carriers: 61

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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bin: 9.75e1
variant carriers: 729

Other
type: Population
allele count: 5
allele frequency: 5.605381165919282e-3
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.838798651547655e-3
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 34
allele frequency: 2.943213296398892e-3
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 382
allele frequency: 5.758041662898315e-3
allele num: 66342
num of homozygotes: 0

South Asian
type: Population
allele count: 304
allele frequency: 1.842424242424242e-2
allele num: 16500
num of homozygotes: 8

African
type: Population
allele count: 2
allele frequency: 1.944390433599067e-4
allele num: 10286
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

BaseQRankSum
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SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.321e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.569502e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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variant carriers: 21

GenotypeDepth
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GenotypeDepth
all individuals: 29
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GenotypeDepth
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1990
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 354
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GenotypeQuality
all individuals: 1915
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 116
allele frequency: 1.346644996517297e-2
allele num: 8614
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

DP
type: SiteQuality
SIO_000300: 1.54456e6

FS
type: SiteQuality
SIO_000300: 1.117e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 182

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

African
type: Population
allele count: 133
allele frequency: 1.297054807879852e-2
allele num: 10254
num of homozygotes: 1

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

Latino
type: Population
allele count: 19
allele frequency: 1.645021645021645e-3
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.370786516853933e-3
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218917601170161e-4
allele num: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.928441919497159e-4
allele num: 66184
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

DP
type: SiteQuality
SIO_000300: 1.539694e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.532817599419799e-5
allele num: 66184
num of homozygotes: 0

Other
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

BaseQRankSum
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SIO_000300: 1.85e0

VQSLOD
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MQRankSum
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SIO_000300: 3.19e-1

FS
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MQ
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SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.539694e6

QD
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 160
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1975
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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Latino
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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ReadPosRankSum
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QD
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VQSLOD
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DP
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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FS
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QD
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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African
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VQSLOD
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MQRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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allele frequency: 2.096924510717614e-3
allele num: 8584
num of homozygotes: 0

ClippingRankSum
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
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allele frequency: 9.942334460131238e-5
allele num: 10058
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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European (Non-Finnish)
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allele frequency: 1.535720867375146e-5
allele num: 65116
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 9.978048293753742e-5
allele num: 10022
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DP
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SIO_000300: 1.461696e6

ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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QD
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MQ
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SIO_000300: 5.973e1

InbreedingCoeff
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SIO_000300: -8.0e-4

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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African
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allele num: 9998
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Other
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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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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European (Finnish)
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num of homozygotes: 0

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

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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SIO_000300: 2.2e-1

ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.831098859792007e-5
allele num: 63848
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 frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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FS
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MQRankSum
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QD
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MQ
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VQSLOD
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.576988582602662e-5
allele num: 63412
num of homozygotes: 0

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

South Asian
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allele 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

BaseQRankSum
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SIO_000300: -3.264e0

FS
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.580977676595206e-5
allele num: 63252
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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MQ
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 63182
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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African
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East Asian
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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allele frequency: NaN
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European (Non-Finnish)
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East Asian
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Other
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African
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Latino
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QD
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DP
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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East Asian
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Other
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InbreedingCoeff
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QD
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MQRankSum
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DP
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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East Asian
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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East Asian
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South Asian
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European (Finnish)
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InbreedingCoeff
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VQSLOD
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QD
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DP
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MQRankSum
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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DP
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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FS
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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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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East Asian
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European (Non-Finnish)
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South Asian
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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African
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South Asian
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East Asian
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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QD
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MQ
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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East Asian
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Latino
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African
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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SIO_000300: 8.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 3.80539e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.311e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

FS
type: SiteQuality
SIO_000300: 6.571e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

DP
type: SiteQuality
SIO_000300: 3.82319e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
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South Asian
type: Population
allele count: 1
allele frequency: 1.266143327424664e-4
allele num: 7898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.735e0

QD
type: SiteQuality
SIO_000300: 6.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 3.83372e5

VQSLOD
type: SiteQuality
SIO_000300: -7.639e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.38e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.158e0

Latino
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allele count: 1
allele frequency: 2.450980392156863e-3
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 196
allele frequency: 2.481012658227848e-2
allele num: 7900
num of homozygotes: 8

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.052631578947368e-2
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 8.24693685202639e-4
allele num: 8488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

DP
type: SiteQuality
SIO_000300: 3.90267e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 1.083e1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.181195369714151e-4
allele num: 8466
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

FS
type: SiteQuality
SIO_000300: 9.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 3.83767e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.798e0

QD
type: SiteQuality
SIO_000300: 1.772e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 7.496251874062968e-4
allele num: 2668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2050
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VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.113e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.99431e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.753826530612245e-3
allele num: 6272
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.622e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.48616e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 3

East Asian
type: Population
allele count: 5
allele frequency: 6.738544474393531e-3
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 449
allele frequency: 5.632212744606122e-2
allele num: 7972
num of homozygotes: 14

Latino
type: Population
allele count: 20
allele frequency: 4.975124378109453e-2
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 116
allele frequency: 1.805728518057285e-2
allele num: 6424
num of homozygotes: 2

African
type: Population
allele count: 139
allele frequency: 6.50749063670412e-2
allele num: 2136
num of homozygotes: 4

Other
type: Population
allele count: 5
allele frequency: 2.777777777777778e-2
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.420454545454545e-2
allele num: 352
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

DP
type: SiteQuality
SIO_000300: 2.67146e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

GenotypeQuality
all individuals: 269
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 2.54227e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.241619071268935e-4
allele num: 8054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.56431e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.659832246039142e-4
allele num: 2146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.67674e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

QD
type: SiteQuality
SIO_000300: 9.92e0

GenotypeQuality
all individuals: 411
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
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African
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allele count: 1
allele frequency: 4.708097928436911e-4
allele num: 2124
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 410
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.224289911851126e-4
allele num: 8168
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 756
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European (Finnish)
type: Population
allele count: 1
allele frequency: 2.538071065989848e-3
allele num: 394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.8e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.714e0

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.283e0

FS
type: SiteQuality
SIO_000300: 2.42049e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e0

QD
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 2.74131e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2170
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South Asian
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allele frequency: 1.282380097460887e-4
allele num: 7798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.645e1

DP
type: SiteQuality
SIO_000300: 2.82191e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
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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
allele num: 594
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Latino
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allele num: 410
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African
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allele frequency: 0.0e0
allele num: 2172
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.107252298263534e-4
allele num: 7832
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.83562e5

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.125e1

GenotypeQuality
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GenotypeQuality
all individuals: 6602
bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
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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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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 660
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

VQSLOD
type: SiteQuality
SIO_000300: -5.524e-1

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.612546125461254e-4
allele num: 2168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.878e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.855e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 2.89394e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 6.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

QD
type: SiteQuality
SIO_000300: 1.543e1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.845018450184502e-3
allele num: 2168
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 2.534e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
SIO_000300: 5.91e1

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 2.89945e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

GenotypeQuality
all individuals: 6925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.302025782688766e-4
allele num: 8688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
SIO_000300: 2.91662e5

FS
type: SiteQuality
SIO_000300: 4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.91641e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -9.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.006e0

QD
type: SiteQuality
SIO_000300: 9.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.616805170821791e-4
allele num: 2166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.91593e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.151543067710732e-4
allele num: 8684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: -4.746e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 9.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 2.91659e5

QD
type: SiteQuality
SIO_000300: 1.037e1

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527805864509606e-4
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

QD
type: SiteQuality
SIO_000300: 9.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 7.13e-1

DP
type: SiteQuality
SIO_000300: 2.9188e5

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.152870647913304e-4
allele num: 8674
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 2.91472e5

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.061e1

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 1.014713343480467e-3
allele num: 7884
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.606e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.184e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

DP
type: SiteQuality
SIO_000300: 2.88734e5

FS
type: SiteQuality
SIO_000300: 7.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.541296060991105e-4
allele num: 7870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

QD
type: SiteQuality
SIO_000300: 2.589e1

VQSLOD
type: SiteQuality
SIO_000300: -2.758e0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.361e0

DP
type: SiteQuality
SIO_000300: 2.88618e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeQuality
all individuals: 268
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3193
bin: 9.75e1
variant carriers: 2870

European (Non-Finnish)
type: Population
allele count: 1271
allele frequency: 1.483080513418903e-1
allele num: 8570
num of homozygotes: 75

African
type: Population
allele count: 155
allele frequency: 7.216014897579143e-2
allele num: 2148
num of homozygotes: 3

South Asian
type: Population
allele count: 1212
allele frequency: 1.54002541296061e-1
allele num: 7870
num of homozygotes: 106

East Asian
type: Population
allele count: 188
allele frequency: 2.404092071611253e-1
allele num: 782
num of homozygotes: 18

Latino
type: Population
allele count: 44
allele frequency: 1.089108910891089e-1
allele num: 404
num of homozygotes: 3

Other
type: Population
allele count: 44
allele frequency: 2.0e-1
allele num: 220
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 294
allele frequency: 2.5e-1
allele num: 1176
num of homozygotes: 31

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

QD
type: SiteQuality
SIO_000300: 1.455e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

DP
type: SiteQuality
SIO_000300: 3.3615e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.664179104477612e-4
allele num: 2144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

QD
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.037e0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.949e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

DP
type: SiteQuality
SIO_000300: 2.8284e5

VQSLOD
type: SiteQuality
SIO_000300: -2.441e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeQuality
all individuals: 368
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.475247524752475e-3
allele num: 404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.411100658513641e-3
allele num: 2126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.962e0

QD
type: SiteQuality
SIO_000300: 1.225e1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

DP
type: SiteQuality
SIO_000300: 2.70257e5

FS
type: SiteQuality
SIO_000300: 4.077e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.327668613913967e-4
allele num: 7532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.788e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

DP
type: SiteQuality
SIO_000300: 2.48152e5

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 200
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.739336492890995e-4
allele num: 2110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 2.3537e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 3.536e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.698e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0